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NC_000022.11:g.48500337_50739785del AND Phelan-McDermid syndrome

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001254365.4

Allele description [Variation Report for NC_000022.11:g.48500337_50739785del]

NC_000022.11:g.48500337_50739785del

Genes:
  • ALG12:ALG12 alpha-1,6-mannosyltransferase [Gene - OMIM - HGNC]
  • LOC130067762:ATAC-STARR-seq lymphoblastoid active region 19277 [Gene]
  • LOC130067763:ATAC-STARR-seq lymphoblastoid active region 19279 [Gene]
  • LOC130067766:ATAC-STARR-seq lymphoblastoid active region 19280 [Gene]
  • LOC130067767:ATAC-STARR-seq lymphoblastoid active region 19281 [Gene]
  • LOC130067774:ATAC-STARR-seq lymphoblastoid active region 19282 [Gene]
  • LOC130067777:ATAC-STARR-seq lymphoblastoid active region 19284 [Gene]
  • LOC130067778:ATAC-STARR-seq lymphoblastoid active region 19285 [Gene]
  • LOC130067779:ATAC-STARR-seq lymphoblastoid active region 19286 [Gene]
  • LOC130067780:ATAC-STARR-seq lymphoblastoid active region 19287 [Gene]
  • LOC130067782:ATAC-STARR-seq lymphoblastoid active region 19288 [Gene]
  • LOC130067792:ATAC-STARR-seq lymphoblastoid active region 19289 [Gene]
  • LOC130067793:ATAC-STARR-seq lymphoblastoid active region 19290 [Gene]
  • LOC130067795:ATAC-STARR-seq lymphoblastoid active region 19291 [Gene]
  • LOC130067796:ATAC-STARR-seq lymphoblastoid active region 19292 [Gene]
  • LOC130067799:ATAC-STARR-seq lymphoblastoid active region 19293 [Gene]
  • LOC130067800:ATAC-STARR-seq lymphoblastoid active region 19294 [Gene]
  • LOC130067801:ATAC-STARR-seq lymphoblastoid active region 19295 [Gene]
  • LOC130067804:ATAC-STARR-seq lymphoblastoid active region 19296 [Gene]
  • LOC130067807:ATAC-STARR-seq lymphoblastoid active region 19297 [Gene]
  • LOC130067814:ATAC-STARR-seq lymphoblastoid active region 19298 [Gene]
  • LOC130067815:ATAC-STARR-seq lymphoblastoid active region 19299 [Gene]
  • LOC130067816:ATAC-STARR-seq lymphoblastoid active region 19300 [Gene]
  • LOC130067817:ATAC-STARR-seq lymphoblastoid active region 19302 [Gene]
  • LOC130067818:ATAC-STARR-seq lymphoblastoid active region 19303 [Gene]
  • LOC130067820:ATAC-STARR-seq lymphoblastoid active region 19304 [Gene]
  • LOC130067821:ATAC-STARR-seq lymphoblastoid active region 19305 [Gene]
  • LOC130067824:ATAC-STARR-seq lymphoblastoid active region 19306 [Gene]
  • LOC130067825:ATAC-STARR-seq lymphoblastoid active region 19307 [Gene]
  • LOC130067826:ATAC-STARR-seq lymphoblastoid active region 19309 [Gene]
  • LOC130067829:ATAC-STARR-seq lymphoblastoid active region 19311 [Gene]
  • LOC130067839:ATAC-STARR-seq lymphoblastoid active region 19312 [Gene]
  • LOC130067845:ATAC-STARR-seq lymphoblastoid active region 19314 [Gene]
  • LOC130067847:ATAC-STARR-seq lymphoblastoid active region 19316 [Gene]
  • LOC130067848:ATAC-STARR-seq lymphoblastoid active region 19317 [Gene]
  • LOC130067852:ATAC-STARR-seq lymphoblastoid active region 19318 [Gene]
  • LOC130067853:ATAC-STARR-seq lymphoblastoid active region 19319 [Gene]
  • LOC130067854:ATAC-STARR-seq lymphoblastoid active region 19320 [Gene]
  • LOC130067858:ATAC-STARR-seq lymphoblastoid active region 19321 [Gene]
  • LOC130067863:ATAC-STARR-seq lymphoblastoid active region 19324 [Gene]
  • LOC130067864:ATAC-STARR-seq lymphoblastoid active region 19325 [Gene]
  • LOC130067872:ATAC-STARR-seq lymphoblastoid active region 19326 [Gene]
  • LOC130067873:ATAC-STARR-seq lymphoblastoid active region 19328 [Gene]
  • LOC130067874:ATAC-STARR-seq lymphoblastoid active region 19329 [Gene]
  • LOC130067875:ATAC-STARR-seq lymphoblastoid active region 19330 [Gene]
  • LOC130067879:ATAC-STARR-seq lymphoblastoid active region 19331 [Gene]
  • LOC130067886:ATAC-STARR-seq lymphoblastoid active region 19332 [Gene]
  • LOC130067888:ATAC-STARR-seq lymphoblastoid active region 19333 [Gene]
  • LOC130067764:ATAC-STARR-seq lymphoblastoid silent region 13920 [Gene]
  • LOC130067765:ATAC-STARR-seq lymphoblastoid silent region 13921 [Gene]
  • LOC130067768:ATAC-STARR-seq lymphoblastoid silent region 13922 [Gene]
  • LOC130067769:ATAC-STARR-seq lymphoblastoid silent region 13923 [Gene]
  • LOC130067770:ATAC-STARR-seq lymphoblastoid silent region 13924 [Gene]
  • LOC130067771:ATAC-STARR-seq lymphoblastoid silent region 13925 [Gene]
  • LOC130067772:ATAC-STARR-seq lymphoblastoid silent region 13926 [Gene]
  • LOC130067773:ATAC-STARR-seq lymphoblastoid silent region 13927 [Gene]
  • LOC130067775:ATAC-STARR-seq lymphoblastoid silent region 13928 [Gene]
  • LOC130067776:ATAC-STARR-seq lymphoblastoid silent region 13929 [Gene]
  • LOC130067781:ATAC-STARR-seq lymphoblastoid silent region 13930 [Gene]
  • LOC130067783:ATAC-STARR-seq lymphoblastoid silent region 13931 [Gene]
  • LOC130067784:ATAC-STARR-seq lymphoblastoid silent region 13932 [Gene]
  • LOC130067785:ATAC-STARR-seq lymphoblastoid silent region 13935 [Gene]
  • LOC130067786:ATAC-STARR-seq lymphoblastoid silent region 13936 [Gene]
  • LOC130067787:ATAC-STARR-seq lymphoblastoid silent region 13937 [Gene]
  • LOC130067788:ATAC-STARR-seq lymphoblastoid silent region 13938 [Gene]
  • LOC130067789:ATAC-STARR-seq lymphoblastoid silent region 13939 [Gene]
  • LOC130067790:ATAC-STARR-seq lymphoblastoid silent region 13940 [Gene]
  • LOC130067791:ATAC-STARR-seq lymphoblastoid silent region 13941 [Gene]
  • LOC130067794:ATAC-STARR-seq lymphoblastoid silent region 13942 [Gene]
  • LOC130067797:ATAC-STARR-seq lymphoblastoid silent region 13943 [Gene]
  • LOC130067798:ATAC-STARR-seq lymphoblastoid silent region 13944 [Gene]
  • LOC130067802:ATAC-STARR-seq lymphoblastoid silent region 13945 [Gene]
  • LOC130067803:ATAC-STARR-seq lymphoblastoid silent region 13946 [Gene]
  • LOC130067805:ATAC-STARR-seq lymphoblastoid silent region 13947 [Gene]
  • LOC130067806:ATAC-STARR-seq lymphoblastoid silent region 13948 [Gene]
  • LOC130067808:ATAC-STARR-seq lymphoblastoid silent region 13949 [Gene]
  • LOC130067809:ATAC-STARR-seq lymphoblastoid silent region 13950 [Gene]
  • LOC130067810:ATAC-STARR-seq lymphoblastoid silent region 13951 [Gene]
  • LOC130067811:ATAC-STARR-seq lymphoblastoid silent region 13952 [Gene]
  • LOC130067812:ATAC-STARR-seq lymphoblastoid silent region 13953 [Gene]
  • LOC130067813:ATAC-STARR-seq lymphoblastoid silent region 13954 [Gene]
  • LOC130067819:ATAC-STARR-seq lymphoblastoid silent region 13955 [Gene]
  • LOC130067822:ATAC-STARR-seq lymphoblastoid silent region 13956 [Gene]
  • LOC130067823:ATAC-STARR-seq lymphoblastoid silent region 13957 [Gene]
  • LOC130067827:ATAC-STARR-seq lymphoblastoid silent region 13958 [Gene]
  • LOC130067828:ATAC-STARR-seq lymphoblastoid silent region 13959 [Gene]
  • LOC130067830:ATAC-STARR-seq lymphoblastoid silent region 13960 [Gene]
  • LOC130067831:ATAC-STARR-seq lymphoblastoid silent region 13961 [Gene]
  • LOC130067832:ATAC-STARR-seq lymphoblastoid silent region 13962 [Gene]
  • LOC130067833:ATAC-STARR-seq lymphoblastoid silent region 13963 [Gene]
  • LOC130067834:ATAC-STARR-seq lymphoblastoid silent region 13964 [Gene]
  • LOC130067835:ATAC-STARR-seq lymphoblastoid silent region 13965 [Gene]
  • LOC130067836:ATAC-STARR-seq lymphoblastoid silent region 13966 [Gene]
  • LOC130067837:ATAC-STARR-seq lymphoblastoid silent region 13968 [Gene]
  • LOC130067838:ATAC-STARR-seq lymphoblastoid silent region 13969 [Gene]
  • LOC130067840:ATAC-STARR-seq lymphoblastoid silent region 13970 [Gene]
  • LOC130067841:ATAC-STARR-seq lymphoblastoid silent region 13971 [Gene]
  • LOC130067842:ATAC-STARR-seq lymphoblastoid silent region 13972 [Gene]
  • LOC130067843:ATAC-STARR-seq lymphoblastoid silent region 13973 [Gene]
  • LOC130067844:ATAC-STARR-seq lymphoblastoid silent region 13974 [Gene]
  • LOC130067846:ATAC-STARR-seq lymphoblastoid silent region 13975 [Gene]
  • LOC130067849:ATAC-STARR-seq lymphoblastoid silent region 13976 [Gene]
  • LOC130067850:ATAC-STARR-seq lymphoblastoid silent region 13977 [Gene]
  • LOC130067851:ATAC-STARR-seq lymphoblastoid silent region 13978 [Gene]
  • LOC130067855:ATAC-STARR-seq lymphoblastoid silent region 13979 [Gene]
  • LOC130067856:ATAC-STARR-seq lymphoblastoid silent region 13981 [Gene]
  • LOC130067857:ATAC-STARR-seq lymphoblastoid silent region 13982 [Gene]
  • LOC130067859:ATAC-STARR-seq lymphoblastoid silent region 13983 [Gene]
  • LOC130067860:ATAC-STARR-seq lymphoblastoid silent region 13984 [Gene]
  • LOC130067861:ATAC-STARR-seq lymphoblastoid silent region 13985 [Gene]
  • LOC130067862:ATAC-STARR-seq lymphoblastoid silent region 13986 [Gene]
  • LOC130067865:ATAC-STARR-seq lymphoblastoid silent region 13987 [Gene]
  • LOC130067866:ATAC-STARR-seq lymphoblastoid silent region 13988 [Gene]
  • LOC130067867:ATAC-STARR-seq lymphoblastoid silent region 13989 [Gene]
  • LOC130067868:ATAC-STARR-seq lymphoblastoid silent region 13991 [Gene]
  • LOC130067869:ATAC-STARR-seq lymphoblastoid silent region 13992 [Gene]
  • LOC130067870:ATAC-STARR-seq lymphoblastoid silent region 13993 [Gene]
  • LOC130067871:ATAC-STARR-seq lymphoblastoid silent region 13994 [Gene]
  • LOC130067876:ATAC-STARR-seq lymphoblastoid silent region 13995 [Gene]
  • LOC130067877:ATAC-STARR-seq lymphoblastoid silent region 13996 [Gene]
  • LOC130067878:ATAC-STARR-seq lymphoblastoid silent region 13997 [Gene]
  • LOC130067880:ATAC-STARR-seq lymphoblastoid silent region 13998 [Gene]
  • LOC130067881:ATAC-STARR-seq lymphoblastoid silent region 13999 [Gene]
  • LOC130067882:ATAC-STARR-seq lymphoblastoid silent region 14000 [Gene]
  • LOC130067883:ATAC-STARR-seq lymphoblastoid silent region 14001 [Gene]
  • LOC130067884:ATAC-STARR-seq lymphoblastoid silent region 14002 [Gene]
  • LOC130067885:ATAC-STARR-seq lymphoblastoid silent region 14003 [Gene]
  • LOC130067887:ATAC-STARR-seq lymphoblastoid silent region 14004 [Gene]
  • LOC126863183:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:49678386-49679585 [Gene]
  • LOC126863187:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:51094338-51095537 [Gene]
  • LOC126863188:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:51142004-51143203 [Gene]
  • CHKB-DT:CHKB divergent transcript [Gene - HGNC]
  • CHKB-CPT1B:CHKB-CPT1B readthrough (NMD candidate) [Gene - HGNC]
  • DENND6B:DENN domain containing 6B [Gene - HGNC]
  • KLHDC7B-DT:KLHDC7B divergent transcript [Gene - HGNC]
  • LOC126863181:MED14-independent group 3 enhancer GRCh37_chr22:49479476-49480675 [Gene]
  • LOC126863184:MED14-independent group 3 enhancer GRCh37_chr22:50720546-50721745 [Gene]
  • LOC126863186:MED14-independent group 3 enhancer GRCh37_chr22:50844619-50845818 [Gene]
  • MIR3667HG:MIR3667 host gene [Gene - HGNC]
  • LOC129391288:MPRA-validated peak4515 silencer [Gene]
  • LOC129391289:MPRA-validated peak4516 silencer [Gene]
  • LOC129391290:MPRA-validated peak4517 silencer [Gene]
  • LOC129391291:MPRA-validated peak4519 silencer [Gene]
  • MOV10L1:Mov10 like RNA helicase 1 [Gene - OMIM - HGNC]
  • LOC132090653:Neanderthal introgressed variant-containing enhancer experimental_63485 [Gene]
  • LOC132090654:Neanderthal introgressed variant-containing enhancer experimental_63487 [Gene]
  • LOC132090923:Neanderthal introgressed variant-containing enhancer experimental_63550 [Gene]
  • LOC132090655:Neanderthal introgressed variant-containing enhancer experimental_63573 [Gene]
  • LOC132090656:Neanderthal introgressed variant-containing enhancer experimental_63615 [Gene]
  • LOC132090924:Neanderthal introgressed variant-containing enhancer experimental_63621 [Gene]
  • LOC132090657:Neanderthal introgressed variant-containing enhancer experimental_63692 [Gene]
  • LOC108281149:ODF3B-KLHDC7B intergenic CAGE-defined mid-level expression enhancer [Gene]
  • LOC126863182:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:49583849-49585048 [Gene]
  • LOC126863185:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:50743729-50744928 [Gene]
  • PIM3:Pim-3 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • SELENOO-AS1:SELENOO antisense RNA 1 [Gene - HGNC]
  • SBF1:SET binding factor 1 [Gene - OMIM - HGNC]
  • SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]
  • LOC112695108:Sharpr-MPRA regulatory region 10948 [Gene]
  • LOC112695107:Sharpr-MPRA regulatory region 11110 [Gene]
  • LOC125446259:Sharpr-MPRA regulatory region 11654 [Gene]
  • LOC125446262:Sharpr-MPRA regulatory region 13947 [Gene]
  • LOC121853048:Sharpr-MPRA regulatory region 1531 [Gene]
  • LOC121627956:Sharpr-MPRA regulatory region 5053 [Gene]
  • LOC121853047:Sharpr-MPRA regulatory region 5393 [Gene]
  • LOC125446260:Sharpr-MPRA regulatory region 8073 [Gene]
  • LOC125446261:Sharpr-MPRA regulatory region 9327 [Gene]
  • LOC111828509:Sharpr-MPRA regulatory regions 3830 and 4902 [Gene]
  • TAFA5:TAFA chemokine like family member 5 [Gene - OMIM - HGNC]
  • TRABD-AS1:TRABD antisense RNA 1 [Gene - HGNC]
  • TRABD:TraB domain containing [Gene - HGNC]
  • ACR:acrosin [Gene - OMIM - HGNC]
  • ADM2:adrenomedullin 2 [Gene - OMIM - HGNC]
  • ARSA:arylsulfatase A [Gene - OMIM - HGNC]
  • BRD1:bromodomain containing 1 [Gene - OMIM - HGNC]
  • CPT1B:carnitine palmitoyltransferase 1B [Gene - OMIM - HGNC]
  • CHKB:choline kinase beta [Gene - OMIM - HGNC]
  • CIMAP1B:ciliary microtubule associated protein 1B [Gene - HGNC]
  • CRELD2:cysteine rich with EGF like domains 2 [Gene - OMIM - HGNC]
  • HDAC10:histone deacetylase 10 [Gene - OMIM - HGNC]
  • IL17REL:interleukin 17 receptor E like [Gene - OMIM - HGNC]
  • KLHDC7B:kelch domain containing 7B [Gene - OMIM - HGNC]
  • LMF2:lipase maturation factor 2 [Gene - HGNC]
  • LINC01310:long intergenic non-protein coding RNA 1310 [Gene - HGNC]
  • MIR12114:microRNA 12114 [Gene - HGNC]
  • MIR3667:microRNA 3667 [Gene - HGNC]
  • MIR4535:microRNA 4535 [Gene - HGNC]
  • MIR6821:microRNA 6821 [Gene - HGNC]
  • MAPK11:mitogen-activated protein kinase 11 [Gene - OMIM - HGNC]
  • MAPK12:mitogen-activated protein kinase 12 [Gene - OMIM - HGNC]
  • MAPK8IP2:mitogen-activated protein kinase 8 interacting protein 2 [Gene - OMIM - HGNC]
  • MLC1:modulator of VRAC current 1 [Gene - OMIM - HGNC]
  • MIOX:myo-inositol oxygenase [Gene - OMIM - HGNC]
  • NHIP:neuronal hypoxia inducible, placenta associated [Gene - HGNC]
  • NCAPH2:non-SMC condensin II complex subunit H2 [Gene - OMIM - HGNC]
  • PANX2:pannexin 2 [Gene - OMIM - HGNC]
  • PLXNB2:plexin B2 [Gene - OMIM - HGNC]
  • PPP6R2:protein phosphatase 6 regulatory subunit 2 [Gene - OMIM - HGNC]
  • SELENOO:selenoprotein O [Gene - OMIM - HGNC]
  • SYCE3:synaptonemal complex central element protein 3 [Gene - OMIM - HGNC]
  • SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]
  • TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
  • TUBGCP6:tubulin gamma complex component 6 [Gene - OMIM - HGNC]
  • TTLL8:tubulin tyrosine ligase like 8 [Gene - OMIM - HGNC]
  • LOC105373100:uncharacterized LOC105373100 [Gene]
  • LOC105377205:uncharacterized LOC105377205 [Gene]
  • LOC284933:uncharacterized LOC284933 [Gene]
  • ZBED4:zinc finger BED-type containing 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q13.32-13.33
Genomic location:
Chr22: 48500337 - 50739785 (on Assembly GRCh38)
Preferred name:
NC_000022.11:g.48500337_50739785del
HGVS:
NC_000022.11:g.48500337_50739785del

Condition(s)

Name:
Phelan-McDermid syndrome
Synonyms:
TELOMERIC 22q13 MONOSOMY SYNDROME; 22q13.3 deletion syndrome; Chromosome 22q13.3 deletion syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011652; MedGen: C1853490; Orphanet: 48652; OMIM: 606232

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001430150Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
no assertion criteria provided
Pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV001430150.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023