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GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 AND Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 24, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003327728.3

Allele description

GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1

Genes:
  • MTR:5-methyltetrahydrofolate-homocysteine methyltransferase [Gene - OMIM - HGNC]
  • AKT3:AKT serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • ARV1:ARV1 homolog, fatty acid homeostasis modulator [Gene - OMIM - HGNC]
  • ARID4B:AT-rich interaction domain 4B [Gene - OMIM - HGNC]
  • LOC129932752:ATAC-STARR-seq lymphoblastoid active region 2717 [Gene]
  • LOC129932754:ATAC-STARR-seq lymphoblastoid active region 2718 [Gene]
  • LOC129932756:ATAC-STARR-seq lymphoblastoid active region 2719 [Gene]
  • LOC129932758:ATAC-STARR-seq lymphoblastoid active region 2720 [Gene]
  • LOC129932761:ATAC-STARR-seq lymphoblastoid active region 2721 [Gene]
  • LOC129932764:ATAC-STARR-seq lymphoblastoid active region 2722 [Gene]
  • LOC129932765:ATAC-STARR-seq lymphoblastoid active region 2723 [Gene]
  • LOC129932767:ATAC-STARR-seq lymphoblastoid active region 2725 [Gene]
  • LOC129932768:ATAC-STARR-seq lymphoblastoid active region 2729 [Gene]
  • LOC129932769:ATAC-STARR-seq lymphoblastoid active region 2730 [Gene]
  • LOC129932770:ATAC-STARR-seq lymphoblastoid active region 2731 [Gene]
  • LOC129932776:ATAC-STARR-seq lymphoblastoid active region 2733 [Gene]
  • LOC129932777:ATAC-STARR-seq lymphoblastoid active region 2738 [Gene]
  • LOC129932778:ATAC-STARR-seq lymphoblastoid active region 2739 [Gene]
  • LOC129932779:ATAC-STARR-seq lymphoblastoid active region 2740 [Gene]
  • LOC129932780:ATAC-STARR-seq lymphoblastoid active region 2741 [Gene]
  • LOC129932784:ATAC-STARR-seq lymphoblastoid active region 2742 [Gene]
  • LOC129932787:ATAC-STARR-seq lymphoblastoid active region 2743 [Gene]
  • LOC129932788:ATAC-STARR-seq lymphoblastoid active region 2744 [Gene]
  • LOC129932792:ATAC-STARR-seq lymphoblastoid active region 2745 [Gene]
  • LOC129932793:ATAC-STARR-seq lymphoblastoid active region 2746 [Gene]
  • LOC129932794:ATAC-STARR-seq lymphoblastoid active region 2747 [Gene]
  • LOC129932795:ATAC-STARR-seq lymphoblastoid active region 2748 [Gene]
  • LOC129932796:ATAC-STARR-seq lymphoblastoid active region 2749 [Gene]
  • LOC129932797:ATAC-STARR-seq lymphoblastoid active region 2750 [Gene]
  • LOC129932802:ATAC-STARR-seq lymphoblastoid active region 2752 [Gene]
  • LOC129932803:ATAC-STARR-seq lymphoblastoid active region 2753 [Gene]
  • LOC129932804:ATAC-STARR-seq lymphoblastoid active region 2754 [Gene]
  • LOC129932805:ATAC-STARR-seq lymphoblastoid active region 2755 [Gene]
  • LOC129932806:ATAC-STARR-seq lymphoblastoid active region 2756 [Gene]
  • LOC129932807:ATAC-STARR-seq lymphoblastoid active region 2759 [Gene]
  • LOC129932810:ATAC-STARR-seq lymphoblastoid active region 2760 [Gene]
  • LOC129932814:ATAC-STARR-seq lymphoblastoid active region 2761 [Gene]
  • LOC129932816:ATAC-STARR-seq lymphoblastoid active region 2762 [Gene]
  • LOC129932817:ATAC-STARR-seq lymphoblastoid active region 2763 [Gene]
  • LOC129932818:ATAC-STARR-seq lymphoblastoid active region 2765 [Gene]
  • LOC129932819:ATAC-STARR-seq lymphoblastoid active region 2768 [Gene]
  • LOC129932820:ATAC-STARR-seq lymphoblastoid active region 2769 [Gene]
  • LOC129932821:ATAC-STARR-seq lymphoblastoid active region 2770 [Gene]
  • LOC129932822:ATAC-STARR-seq lymphoblastoid active region 2771 [Gene]
  • LOC129932823:ATAC-STARR-seq lymphoblastoid active region 2772 [Gene]
  • LOC129932824:ATAC-STARR-seq lymphoblastoid active region 2773 [Gene]
  • LOC129932825:ATAC-STARR-seq lymphoblastoid active region 2774 [Gene]
  • LOC129932826:ATAC-STARR-seq lymphoblastoid active region 2777 [Gene]
  • LOC129932827:ATAC-STARR-seq lymphoblastoid active region 2778 [Gene]
  • LOC129932830:ATAC-STARR-seq lymphoblastoid active region 2779 [Gene]
  • LOC129932831:ATAC-STARR-seq lymphoblastoid active region 2780 [Gene]
  • LOC129932832:ATAC-STARR-seq lymphoblastoid active region 2784 [Gene]
  • LOC129932833:ATAC-STARR-seq lymphoblastoid active region 2785 [Gene]
  • LOC129932834:ATAC-STARR-seq lymphoblastoid active region 2786 [Gene]
  • LOC129932835:ATAC-STARR-seq lymphoblastoid active region 2787 [Gene]
  • LOC129932836:ATAC-STARR-seq lymphoblastoid active region 2788 [Gene]
  • LOC129932837:ATAC-STARR-seq lymphoblastoid active region 2789 [Gene]
  • LOC129932838:ATAC-STARR-seq lymphoblastoid active region 2790 [Gene]
  • LOC129932839:ATAC-STARR-seq lymphoblastoid active region 2791 [Gene]
  • LOC129932841:ATAC-STARR-seq lymphoblastoid active region 2792 [Gene]
  • LOC129932842:ATAC-STARR-seq lymphoblastoid active region 2793 [Gene]
  • LOC129932843:ATAC-STARR-seq lymphoblastoid active region 2794 [Gene]
  • LOC129932844:ATAC-STARR-seq lymphoblastoid active region 2795 [Gene]
  • LOC129932845:ATAC-STARR-seq lymphoblastoid active region 2797 [Gene]
  • LOC129932847:ATAC-STARR-seq lymphoblastoid active region 2798 [Gene]
  • LOC129932848:ATAC-STARR-seq lymphoblastoid active region 2799 [Gene]
  • LOC129932849:ATAC-STARR-seq lymphoblastoid active region 2800 [Gene]
  • LOC129932851:ATAC-STARR-seq lymphoblastoid active region 2803 [Gene]
  • LOC129932853:ATAC-STARR-seq lymphoblastoid active region 2804 [Gene]
  • LOC129932854:ATAC-STARR-seq lymphoblastoid active region 2805 [Gene]
  • LOC129932855:ATAC-STARR-seq lymphoblastoid active region 2806 [Gene]
  • LOC129932858:ATAC-STARR-seq lymphoblastoid active region 2807 [Gene]
  • LOC129932860:ATAC-STARR-seq lymphoblastoid active region 2808 [Gene]
  • LOC129869688:ATAC-STARR-seq lymphoblastoid active region 2809 [Gene]
  • LOC129932862:ATAC-STARR-seq lymphoblastoid active region 2812 [Gene]
  • LOC129929020:ATAC-STARR-seq lymphoblastoid active region 2813 [Gene]
  • LOC129932867:ATAC-STARR-seq lymphoblastoid active region 2814 [Gene]
  • LOC129932868:ATAC-STARR-seq lymphoblastoid active region 2815 [Gene]
  • LOC129932870:ATAC-STARR-seq lymphoblastoid active region 2816 [Gene]
  • LOC129932871:ATAC-STARR-seq lymphoblastoid active region 2817 [Gene]
  • LOC129932872:ATAC-STARR-seq lymphoblastoid active region 2818 [Gene]
  • LOC129932873:ATAC-STARR-seq lymphoblastoid active region 2819 [Gene]
  • LOC129932876:ATAC-STARR-seq lymphoblastoid active region 2820 [Gene]
  • LOC129932877:ATAC-STARR-seq lymphoblastoid active region 2821 [Gene]
  • LOC129932878:ATAC-STARR-seq lymphoblastoid active region 2822 [Gene]
  • LOC129932879:ATAC-STARR-seq lymphoblastoid active region 2823 [Gene]
  • LOC129932883:ATAC-STARR-seq lymphoblastoid active region 2825 [Gene]
  • LOC129932885:ATAC-STARR-seq lymphoblastoid active region 2826 [Gene]
  • LOC129932886:ATAC-STARR-seq lymphoblastoid active region 2827 [Gene]
  • LOC129932889:ATAC-STARR-seq lymphoblastoid active region 2828 [Gene]
  • LOC129932890:ATAC-STARR-seq lymphoblastoid active region 2829 [Gene]
  • LOC129932891:ATAC-STARR-seq lymphoblastoid active region 2830 [Gene]
  • LOC129932753:ATAC-STARR-seq lymphoblastoid silent region 1939 [Gene]
  • LOC129932755:ATAC-STARR-seq lymphoblastoid silent region 1941 [Gene]
  • LOC129932757:ATAC-STARR-seq lymphoblastoid silent region 1942 [Gene]
  • LOC129932759:ATAC-STARR-seq lymphoblastoid silent region 1944 [Gene]
  • LOC129932760:ATAC-STARR-seq lymphoblastoid silent region 1945 [Gene]
  • LOC129932762:ATAC-STARR-seq lymphoblastoid silent region 1947 [Gene]
  • LOC129932763:ATAC-STARR-seq lymphoblastoid silent region 1948 [Gene]
  • LOC129932766:ATAC-STARR-seq lymphoblastoid silent region 1949 [Gene]
  • LOC129932771:ATAC-STARR-seq lymphoblastoid silent region 1954 [Gene]
  • LOC129932772:ATAC-STARR-seq lymphoblastoid silent region 1955 [Gene]
  • LOC129932773:ATAC-STARR-seq lymphoblastoid silent region 1956 [Gene]
  • LOC129932774:ATAC-STARR-seq lymphoblastoid silent region 1957 [Gene]
  • LOC129932775:ATAC-STARR-seq lymphoblastoid silent region 1958 [Gene]
  • LOC129932781:ATAC-STARR-seq lymphoblastoid silent region 1959 [Gene]
  • LOC129932782:ATAC-STARR-seq lymphoblastoid silent region 1960 [Gene]
  • LOC129932783:ATAC-STARR-seq lymphoblastoid silent region 1962 [Gene]
  • LOC129932785:ATAC-STARR-seq lymphoblastoid silent region 1964 [Gene]
  • LOC129932786:ATAC-STARR-seq lymphoblastoid silent region 1965 [Gene]
  • LOC129932789:ATAC-STARR-seq lymphoblastoid silent region 1966 [Gene]
  • LOC129932790:ATAC-STARR-seq lymphoblastoid silent region 1967 [Gene]
  • LOC129932791:ATAC-STARR-seq lymphoblastoid silent region 1968 [Gene]
  • LOC129932798:ATAC-STARR-seq lymphoblastoid silent region 1969 [Gene]
  • LOC129932799:ATAC-STARR-seq lymphoblastoid silent region 1970 [Gene]
  • LOC129932800:ATAC-STARR-seq lymphoblastoid silent region 1971 [Gene]
  • LOC129932801:ATAC-STARR-seq lymphoblastoid silent region 1972 [Gene]
  • LOC129932808:ATAC-STARR-seq lymphoblastoid silent region 1974 [Gene]
  • LOC129932809:ATAC-STARR-seq lymphoblastoid silent region 1975 [Gene]
  • LOC129932811:ATAC-STARR-seq lymphoblastoid silent region 1976 [Gene]
  • LOC129932812:ATAC-STARR-seq lymphoblastoid silent region 1977 [Gene]
  • LOC129932813:ATAC-STARR-seq lymphoblastoid silent region 1978 [Gene]
  • LOC129932815:ATAC-STARR-seq lymphoblastoid silent region 1981 [Gene]
  • LOC129932828:ATAC-STARR-seq lymphoblastoid silent region 1982 [Gene]
  • LOC129932829:ATAC-STARR-seq lymphoblastoid silent region 1983 [Gene]
  • LOC129932840:ATAC-STARR-seq lymphoblastoid silent region 1984 [Gene]
  • LOC129932846:ATAC-STARR-seq lymphoblastoid silent region 1987 [Gene]
  • LOC129932850:ATAC-STARR-seq lymphoblastoid silent region 1989 [Gene]
  • LOC129932852:ATAC-STARR-seq lymphoblastoid silent region 1990 [Gene]
  • LOC129932856:ATAC-STARR-seq lymphoblastoid silent region 1991 [Gene]
  • LOC129932857:ATAC-STARR-seq lymphoblastoid silent region 1992 [Gene]
  • LOC129932859:ATAC-STARR-seq lymphoblastoid silent region 1993 [Gene]
  • LOC129932861:ATAC-STARR-seq lymphoblastoid silent region 1994 [Gene]
  • LOC129932863:ATAC-STARR-seq lymphoblastoid silent region 1995 [Gene]
  • LOC129932864:ATAC-STARR-seq lymphoblastoid silent region 1996 [Gene]
  • LOC129932865:ATAC-STARR-seq lymphoblastoid silent region 1997 [Gene]
  • LOC129932866:ATAC-STARR-seq lymphoblastoid silent region 1998 [Gene]
  • LOC129932869:ATAC-STARR-seq lymphoblastoid silent region 1999 [Gene]
  • LOC129932874:ATAC-STARR-seq lymphoblastoid silent region 2000 [Gene]
  • LOC129932875:ATAC-STARR-seq lymphoblastoid silent region 2001 [Gene]
  • LOC129932880:ATAC-STARR-seq lymphoblastoid silent region 2002 [Gene]
  • LOC129932881:ATAC-STARR-seq lymphoblastoid silent region 2003 [Gene]
  • LOC129932882:ATAC-STARR-seq lymphoblastoid silent region 2004 [Gene]
  • LOC129932884:ATAC-STARR-seq lymphoblastoid silent region 2005 [Gene]
  • LOC129932887:ATAC-STARR-seq lymphoblastoid silent region 2006 [Gene]
  • LOC129932888:ATAC-STARR-seq lymphoblastoid silent region 2007 [Gene]
  • LOC126806048:BRD4-independent group 4 enhancer GRCh37_chr1:233113500-233114699 [Gene]
  • LOC126806051:BRD4-independent group 4 enhancer GRCh37_chr1:233393606-233394805 [Gene]
  • LOC126806053:BRD4-independent group 4 enhancer GRCh37_chr1:233859728-233860927 [Gene]
  • LOC126806055:BRD4-independent group 4 enhancer GRCh37_chr1:234208561-234209760 [Gene]
  • LOC126806059:BRD4-independent group 4 enhancer GRCh37_chr1:235323819-235325018 [Gene]
  • LOC126806062:BRD4-independent group 4 enhancer GRCh37_chr1:235832683-235833882 [Gene]
  • LOC126806064:BRD4-independent group 4 enhancer GRCh37_chr1:235884502-235885701 [Gene]
  • LOC126806067:BRD4-independent group 4 enhancer GRCh37_chr1:237753258-237754457 [Gene]
  • LOC126806068:BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610 [Gene]
  • LOC126806071:BRD4-independent group 4 enhancer GRCh37_chr1:242611784-242612983 [Gene]
  • LOC126806074:BRD4-independent group 4 enhancer GRCh37_chr1:243617070-243618269 [Gene]
  • LOC126806043:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:231647424-231648623 [Gene]
  • LOC126806045:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:232179763-232180962 [Gene]
  • LOC126806047:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:233059320-233060519 [Gene]
  • LOC126806049:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:233250348-233251547 [Gene]
  • LOC126806054:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:234159353-234160552 [Gene]
  • LOC120908920:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:234907153-234908352 [Gene]
  • LOC126806058:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:235133684-235134883 [Gene]
  • LOC126806065:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:236073306-236074505 [Gene]
  • LOC126806069:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:240421073-240422272 [Gene]
  • CHML:CHM like Rab escort protein [Gene - OMIM - HGNC]
  • CHRM3-AS1:CHRM3 antisense RNA 1 [Gene - HGNC]
  • CHRM3-AS2:CHRM3 antisense RNA 2 [Gene - HGNC]
  • COA6-AS1:COA6 antisense RNA 1 [Gene - HGNC]
  • LOC115804249:CRISPRi-validated cis-regulatory element chr1.12443 [Gene]
  • LOC115804250:CRISPRi-validated cis-regulatory element chr1.12444 [Gene]
  • LOC115804251:CRISPRi-validated cis-regulatory element chr1.12445 [Gene]
  • LOC115804252:CRISPRi-validated cis-regulatory element chr1.12446 [Gene]
  • LOC115804253:CRISPRi-validated cis-regulatory element chr1.12743 [Gene]
  • DISC1-IT1:DISC1 intronic transcript 1 [Gene - HGNC]
  • DISC1:DISC1 scaffold protein [Gene - OMIM - HGNC]
  • EDARADD:EDAR associated via death domain [Gene - OMIM - HGNC]
  • GNG4:G protein subunit gamma 4 [Gene - OMIM - HGNC]
  • GPR137B:G protein-coupled receptor 137B [Gene - OMIM - HGNC]
  • LOC111365208:GATA motif-containing MPRA enhancer 94/95 [Gene]
  • LOC112577554:H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:230468147-230468791 and GRCh37_chr1:230468792-230469436 [Gene]
  • HEATR1:HEAT repeat containing 1 [Gene - OMIM - HGNC]
  • LGALS8-AS1:LGALS8 antisense RNA 1 [Gene - HGNC]
  • LOC126806042:MED14-independent group 3 enhancer GRCh37_chr1:230990988-230992187 [Gene]
  • LOC126806044:MED14-independent group 3 enhancer GRCh37_chr1:231663972-231665171 [Gene]
  • LOC126806046:MED14-independent group 3 enhancer GRCh37_chr1:232884037-232885236 [Gene]
  • LOC126806050:MED14-independent group 3 enhancer GRCh37_chr1:233314891-233316090 [Gene]
  • LOC126806052:MED14-independent group 3 enhancer GRCh37_chr1:233843943-233845142 [Gene]
  • LOC126806057:MED14-independent group 3 enhancer GRCh37_chr1:235098512-235099711 [Gene]
  • LOC126806060:MED14-independent group 3 enhancer GRCh37_chr1:235605546-235606745 [Gene]
  • LOC126806063:MED14-independent group 3 enhancer GRCh37_chr1:235871544-235872743 [Gene]
  • LOC126806066:MED14-independent group 3 enhancer GRCh37_chr1:237451188-237452387 [Gene]
  • LOC126806070:MED14-independent group 3 enhancer GRCh37_chr1:241099640-241100839 [Gene]
  • LOC126806073:MED14-independent group 3 enhancer GRCh37_chr1:243431137-243432336 [Gene]
  • LOC129388799:MPRA-validated peak4110 silencer [Gene]
  • LOC129388775:MPRA-validated peak762 silencer [Gene]
  • LOC129388776:MPRA-validated peak764 silencer [Gene]
  • LOC129388777:MPRA-validated peak765 silencer [Gene]
  • LOC129388778:MPRA-validated peak767 silencer [Gene]
  • LOC129388779:MPRA-validated peak768 silencer [Gene]
  • LOC129388780:MPRA-validated peak771 silencer [Gene]
  • LOC129388781:MPRA-validated peak773 silencer [Gene]
  • LOC129388782:MPRA-validated peak774 silencer [Gene]
  • LOC129388783:MPRA-validated peak779 silencer [Gene]
  • LOC129388784:MPRA-validated peak780 silencer [Gene]
  • LOC129388785:MPRA-validated peak781 silencer [Gene]
  • LOC129388786:MPRA-validated peak782 silencer [Gene]
  • LOC129388787:MPRA-validated peak784 silencer [Gene]
  • LOC129388788:MPRA-validated peak785 silencer [Gene]
  • LOC129388789:MPRA-validated peak786 silencer [Gene]
  • LOC129388790:MPRA-validated peak787 silencer [Gene]
  • LOC129388791:MPRA-validated peak789 silencer [Gene]
  • LOC129388792:MPRA-validated peak794 silencer [Gene]
  • LOC129388793:MPRA-validated peak795 silencer [Gene]
  • LOC129388794:MPRA-validated peak797 silencer [Gene]
  • LOC129388795:MPRA-validated peak799 silencer [Gene]
  • LOC129388796:MPRA-validated peak800 silencer [Gene]
  • LOC129388797:MPRA-validated peak801 silencer [Gene]
  • LOC129388798:MPRA-validated peak802 silencer [Gene]
  • LOC107548103:MS32 minisatellite repeat instability region [Gene]
  • LOC112577557:NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:235122747-235123286 and GRCh37_chr1:235122207-235122746 [Gene]
  • LOC111365197:NFE2L2 motif-containing MPRA enhancer 72 [Gene]
  • LOC132088676:Neanderthal introgressed variant-containing enhancer experimental_5949 [Gene]
  • LOC132088677:Neanderthal introgressed variant-containing enhancer experimental_5966 [Gene]
  • LOC132088678:Neanderthal introgressed variant-containing enhancer experimental_5991 [Gene]
  • LOC132088679:Neanderthal introgressed variant-containing enhancer experimental_6018 [Gene]
  • LOC132090677:Neanderthal introgressed variant-containing enhancer experimental_6114 [Gene]
  • LOC132088680:Neanderthal introgressed variant-containing enhancer experimental_6136 [Gene]
  • LOC132088681:Neanderthal introgressed variant-containing enhancer experimental_6156 [Gene]
  • LOC132088683:Neanderthal introgressed variant-containing enhancer experimental_6338 [Gene]
  • LOC132088684:Neanderthal introgressed variant-containing enhancer experimental_6359 [Gene]
  • LOC132088685:Neanderthal introgressed variant-containing enhancer experimental_6389 [Gene]
  • LOC132088686:Neanderthal introgressed variant-containing enhancer experimental_6394 [Gene]
  • LOC126806056:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:234792319-234793518 [Gene]
  • LOC126806061:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:235695340-235696539 [Gene]
  • LOC126264117:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:236162526-236163725 [Gene]
  • LOC112577560:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:236259904-236261103 [Gene]
  • LOC126806072:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:242792333-242793532 [Gene]
  • RBM34:RNA binding motif protein 34 [Gene - OMIM - HGNC]
  • SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
  • SLC35F3-AS1:SLC35F3 antisense RNA 1 [Gene - HGNC]
  • LOC122152342:Sharpr-MPRA regulatory region 10113 [Gene]
  • LOC122152338:Sharpr-MPRA regulatory region 1023 [Gene]
  • LOC120908919:Sharpr-MPRA regulatory region 10256 [Gene]
  • LOC120908923:Sharpr-MPRA regulatory region 105 [Gene]
  • LOC120908917:Sharpr-MPRA regulatory region 10620 [Gene]
  • LOC112577555:Sharpr-MPRA regulatory region 10666 [Gene]
  • LOC122152345:Sharpr-MPRA regulatory region 11090 [Gene]
  • LOC122152336:Sharpr-MPRA regulatory region 11665 [Gene]
  • LOC122152348:Sharpr-MPRA regulatory region 1169 [Gene]
  • LOC120908918:Sharpr-MPRA regulatory region 12347 [Gene]
  • LOC122152343:Sharpr-MPRA regulatory region 12432 [Gene]
  • LOC120908921:Sharpr-MPRA regulatory region 12865 [Gene]
  • LOC120908916:Sharpr-MPRA regulatory region 1313 [Gene]
  • LOC120908922:Sharpr-MPRA regulatory region 13312 [Gene]
  • LOC122152353:Sharpr-MPRA regulatory region 1428 [Gene]
  • LOC122152340:Sharpr-MPRA regulatory region 14716 [Gene]
  • LOC122152339:Sharpr-MPRA regulatory region 15021 [Gene]
  • LOC122152346:Sharpr-MPRA regulatory region 1811 [Gene]
  • LOC112577561:Sharpr-MPRA regulatory region 2344 [Gene]
  • LOC122152334:Sharpr-MPRA regulatory region 2465 [Gene]
  • LOC122152333:Sharpr-MPRA regulatory region 2982 [Gene]
  • LOC112577565:Sharpr-MPRA regulatory region 3307 [Gene]
  • LOC122152349:Sharpr-MPRA regulatory region 3663 [Gene]
  • LOC122152347:Sharpr-MPRA regulatory region 3741 [Gene]
  • LOC122152341:Sharpr-MPRA regulatory region 4208 [Gene]
  • LOC122152344:Sharpr-MPRA regulatory region 4610 [Gene]
  • LOC112577558:Sharpr-MPRA regulatory region 4658 [Gene]
  • LOC122152335:Sharpr-MPRA regulatory region 4964 [Gene]
  • LOC112577559:Sharpr-MPRA regulatory region 5019 [Gene]
  • LOC122152352:Sharpr-MPRA regulatory region 5448 [Gene]
  • LOC120908915:Sharpr-MPRA regulatory region 5532 [Gene]
  • LOC112577556:Sharpr-MPRA regulatory region 7312 [Gene]
  • LOC122152337:Sharpr-MPRA regulatory region 8140 [Gene]
  • LOC122152351:Sharpr-MPRA regulatory region 8354 [Gene]
  • LOC122152350:Sharpr-MPRA regulatory region 9224 [Gene]
  • LOC121725076:Sharpr-MPRA regulatory region 9340 [Gene]
  • SPRTN:SprT-like N-terminal domain [Gene - OMIM - HGNC]
  • TARBP1:TAR (HIV-1) RNA binding protein 1 [Gene - OMIM - HGNC]
  • TRIM67-AS1:TRIM67 antisense RNA 1 [Gene - HGNC]
  • TSNAX-DISC1:TSNAX-DISC1 readthrough (NMD candidate) [Gene - HGNC]
  • LOC110121205:VISTA enhancer hs1766 [Gene]
  • LOC110121263:VISTA enhancer hs2133 [Gene]
  • LOC110121264:VISTA enhancer hs2135 [Gene]
  • LOC110121265:VISTA enhancer hs2137 [Gene]
  • LOC110121266:VISTA enhancer hs2138 [Gene]
  • WDR64:WD repeat domain 64 [Gene - HGNC]
  • ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
  • AGT:angiotensinogen [Gene - OMIM - HGNC]
  • BECN2:beclin 2 [Gene - OMIM - HGNC]
  • B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
  • CAPN9:calpain 9 [Gene - OMIM - HGNC]
  • CEP170:centrosomal protein 170 [Gene - OMIM - HGNC]
  • CHRM3:cholinergic receptor muscarinic 3 [Gene - OMIM - HGNC]
  • C1orf131:chromosome 1 open reading frame 131 [Gene - HGNC]
  • C1orf198:chromosome 1 open reading frame 198 [Gene - HGNC]
  • COG2:component of oligomeric golgi complex 2 [Gene - OMIM - HGNC]
  • LOC108004528:control region 3 heart enhancer [Gene]
  • COA6:cytochrome c oxidase assembly factor 6 [Gene - OMIM - HGNC]
  • DISC2:disrupted in schizophrenia 2 [Gene - OMIM - HGNC]
  • EGLN1:egl-9 family hypoxia inducible factor 1 [Gene - OMIM - HGNC]
  • ERO1B:endoplasmic reticulum oxidoreductase 1 beta [Gene - OMIM - HGNC]
  • EXOC8:exocyst complex component 8 [Gene - OMIM - HGNC]
  • EXO1:exonuclease 1 [Gene - OMIM - HGNC]
  • FAM89A:family with sequence similarity 89 member A [Gene - HGNC]
  • FMN2:formin 2 [Gene - OMIM - HGNC]
  • FH:fumarate hydratase [Gene - OMIM - HGNC]
  • LGALS8:galectin 8 [Gene - OMIM - HGNC]
  • GGPS1:geranylgeranyl diphosphate synthase 1 [Gene - OMIM - HGNC]
  • GNPAT:glyceronephosphate O-acyltransferase [Gene - OMIM - HGNC]
  • GREM2:gremlin 2, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • IRF2BP2:interferon regulatory factor 2 binding protein 2 [Gene - OMIM - HGNC]
  • KMO:kynurenine 3-monooxygenase [Gene - OMIM - HGNC]
  • LNCATV:lncRNA negative regulator of antiviral signaling [Gene - HGNC]
  • LINC01132:long intergenic non-protein coding RNA 1132 [Gene - HGNC]
  • LINC01139:long intergenic non-protein coding RNA 1139 [Gene - HGNC]
  • LINC01347:long intergenic non-protein coding RNA 1347 [Gene - HGNC]
  • LINC01348:long intergenic non-protein coding RNA 1348 [Gene - HGNC]
  • LINC01354:long intergenic non-protein coding RNA 1354 [Gene - HGNC]
  • LINC01737:long intergenic non-protein coding RNA 1737 [Gene - HGNC]
  • LINC01744:long intergenic non-protein coding RNA 1744 [Gene - HGNC]
  • LINC01745:long intergenic non-protein coding RNA 1745 [Gene - HGNC]
  • LINC00184:long intergenic non-protein coding RNA 184 [Gene - HGNC]
  • LINC02768:long intergenic non-protein coding RNA 2768 [Gene - HGNC]
  • LINC02961:long intergenic non-protein coding RNA 2961 [Gene - HGNC]
  • LINC02971:long intergenic non-protein coding RNA 2971 [Gene - HGNC]
  • LINC03108:long intergenic non-protein coding RNA 3108 [Gene - HGNC]
  • LINC00582:long intergenic non-protein coding RNA 582 [Gene - HGNC]
  • LYST:lysosomal trafficking regulator [Gene - OMIM - HGNC]
  • LOC107546778:meiotic recombination hotspot MSTM1 [Gene]
  • LOC107546780:meiotic recombination hotspot MSTM2 [Gene]
  • LOC107546745:meiotic recombination hotspot NID1 [Gene]
  • LOC107546746:meiotic recombination hotspot NID2 [Gene]
  • LOC107546747:meiotic recombination hotspot NID3 [Gene]
  • MT1HL1:metallothionein 1H like 1 [Gene - HGNC]
  • MIR1182:microRNA 1182 [Gene - HGNC]
  • MIR1537:microRNA 1537 [Gene - HGNC]
  • MIR3123:microRNA 3123 [Gene - HGNC]
  • MIR4427:microRNA 4427 [Gene - HGNC]
  • MIR4428:microRNA 4428 [Gene - HGNC]
  • MIR4671:microRNA 4671 [Gene - HGNC]
  • MIR4677:microRNA 4677 [Gene - HGNC]
  • MIR4753:microRNA 4753 [Gene - HGNC]
  • MAP1LC3C:microtubule associated protein 1 light chain 3 gamma [Gene - OMIM - HGNC]
  • MAP10:microtubule associated protein 10 [Gene - OMIM - HGNC]
  • MAP3K21:mitogen-activated protein kinase kinase kinase 21 [Gene - OMIM - HGNC]
  • NID1:nidogen 1 [Gene - OMIM - HGNC]
  • NTPCR:nucleoside-triphosphatase, cancer-related [Gene - HGNC]
  • OPN3:opsin 3 [Gene - OMIM - HGNC]
  • PCNX2:pecanex 2 [Gene - OMIM - HGNC]
  • PLD5:phospholipase D family member 5 [Gene - HGNC]
  • PGBD5:piggyBac transposable element derived 5 [Gene - OMIM - HGNC]
  • GALNT2:polypeptide N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
  • KCNK1:potassium two pore domain channel subfamily K member 1 [Gene - OMIM - HGNC]
  • RGS7:regulator of G protein signaling 7 [Gene - OMIM - HGNC]
  • RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
  • SIPA1L2:signal induced proliferation associated 1 like 2 [Gene - OMIM - HGNC]
  • SNORA14B:small nucleolar RNA, H/ACA box 14B [Gene - HGNC]
  • SLC35F3:solute carrier family 35 member F3 [Gene - HGNC]
  • TTC13:tetratricopeptide repeat domain 13 [Gene - HGNC]
  • TSNAX:translin associated factor X [Gene - OMIM - HGNC]
  • TOMM20:translocase of outer mitochondrial membrane 20 [Gene - OMIM - HGNC]
  • TRIM67:tripartite motif containing 67 [Gene - OMIM - HGNC]
  • TBCE:tubulin folding cofactor E [Gene - OMIM - HGNC]
  • LOC100506929:uncharacterized LOC100506929 [Gene]
  • LOC101927604:uncharacterized LOC101927604 [Gene]
  • LOC101927787:uncharacterized LOC101927787 [Gene]
  • LOC105373209:uncharacterized LOC105373209 [Gene]
  • LOC122526782:uncharacterized LOC122526782 [Gene]
  • ZP4:zona pellucida glycoprotein 4 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q42.13-44
Genomic location:
Chr1: 230178121 - 243646135 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1
HGVS:

    Condition(s)

    Name:
    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2)
    Synonyms:
    MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, SOMATIC
    Identifiers:
    MONDO: MONDO:0014407; MedGen: C4014738; Orphanet: 83473; OMIM: 615937

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004034256Broad Institute Rare Disease Group, Broad Institute
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Aug 24, 2023)     		de novoresearch

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedresearch

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Broad Institute Rare Disease Group, Broad Institute, SCV004034256.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedresearch PubMed (1)

    Description

    A confirmed de novo heterozygous deletion of 1q42q-q44 encompassing 53 genes (https://genescout.omim.org/) was identified by exome sequencing in one individual with global developmental delay and hypoplasia of the corpus callosum ([GRCh38] chr1:230178121_243646135x1). These breakpoints have been estimated by exome sequencing only and therefore may not reflect the true breakpoints. The patient phenotype is nonspecific, but is consistent with cases described in the literature and/or published databases with overlapping variants. A deletion with similar genetic overlap has been reported (Variation ID: 57387) and has been interpreted as likely pathogenic by ISCA site 4. There is complete overlap with the FH gene and 1q43q44 terminal region which are known to be haploinsufficient and have been assessed by the ClinGen Dosage Sensitivity Working Group (https://search.clinicalgenome.org/kb/gene-dosage). In summary, the 1q42q-q44 deletion meets criteria to be classified as pathogenic. The ACMG/ClinGen evidence codes and points used in this curation are as follows: 1: 0 points, 2: 1.00 points, 3: 0.90 points, 4-5: 0.15 points; Total: 2.05 points; Riggs 2020 (PMID: 31690835)

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Oct 14, 2023