GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) AND Silver-Russell syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2018
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000767567.1
Allele description [Variation Report for GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)]
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)
- Genes:
- AKIP1:A-kinase interacting protein 1 [Gene - OMIM - HGNC]
- ARFIP2:ADP ribosylation factor interacting protein 2 [Gene - OMIM - HGNC]
- ART1:ADP-ribosyltransferase 1 [Gene - OMIM - HGNC]
- ART5:ADP-ribosyltransferase 5 [Gene - OMIM - HGNC]
- BRSK2:BR serine/threonine kinase 2 [Gene - OMIM - HGNC]
- BET1L:Bet1 golgi vesicular membrane trafficking protein like [Gene - OMIM - HGNC]
- CD151:CD151 molecule (Raph blood group) [Gene - OMIM - HGNC]
- CD81:CD81 molecule [Gene - OMIM - HGNC]
- CTR9:CTR9 homolog, Paf1/RNA polymerase II complex component [Gene - OMIM - HGNC]
- DEAF1:DEAF1 transcription factor [Gene - OMIM - HGNC]
- DENND2B:DENN domain containing 2B [Gene - OMIM - HGNC]
- DENND5A:DENN domain containing 5A [Gene - OMIM - HGNC]
- EPS8L2:EPS8 signaling adaptor L2 [Gene - OMIM - HGNC]
- FHIP1B:FHF complex subunit HOOK interacting protein 1B [Gene - OMIM - HGNC]
- H19:H19 imprinted maternally expressed transcript [Gene - OMIM - HGNC]
- HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
- IGF2-AS:IGF2 antisense RNA [Gene - OMIM - HGNC]
- INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
- KCNQ1DN:KCNQ1 downstream neighbor [Gene - OMIM - HGNC]
- KCNQ1OT1:KCNQ1 opposite strand/antisense transcript 1 [Gene - OMIM - HGNC]
- LMO1:LIM domain only 1 [Gene - OMIM - HGNC]
- LMNTD2-AS1:LMNTD2 antisense RNA 1 [Gene - HGNC]
- MRGPRE:MAS related GPR family member E [Gene - OMIM - HGNC]
- MRGPRG:MAS related GPR family member G [Gene - OMIM - HGNC]
- MICALCL:MICAL C-terminal like [Gene - OMIM - HGNC]
- MIR210HG:MIR210 host gene [Gene - HGNC]
- MOB2:MOB kinase activator 2 [Gene - OMIM - HGNC]
- MTRNR2L8:MT-RNR2 like 8 [Gene - HGNC]
- NLRP10:NLR family pyrin domain containing 10 [Gene - OMIM - HGNC]
- NLRP14:NLR family pyrin domain containing 14 [Gene - OMIM - HGNC]
- NLRP6:NLR family pyrin domain containing 6 [Gene - OMIM - HGNC]
- PHRF1:PHD and ring finger domains 1 [Gene - OMIM - HGNC]
- PPFIBP2:PPFIA binding protein 2 [Gene - OMIM - HGNC]
- RBMXL2:RBMX like 2 [Gene - OMIM - HGNC]
- RIC3:RIC3 acetylcholine receptor chaperone [Gene - OMIM - HGNC]
- RIC8A:RIC8 guanine nucleotide exchange factor A [Gene - OMIM - HGNC]
- POLR2L:RNA polymerase II, I and III subunit L [Gene - OMIM - HGNC]
- RASSF7:Ras association domain family member 7 [Gene - OMIM - HGNC]
- SBF2:SET binding factor 2 [Gene - OMIM - HGNC]
- SLC22A18AS:SLC22A18 antisense RNA [Gene - OMIM - HGNC]
- TAF10:TATA-box binding protein associated factor 10 [Gene - OMIM - HGNC]
- TMEM9B:TMEM9 domain family member B [Gene - OMIM - HGNC]
- TUB:TUB bipartite transcription factor [Gene - OMIM - HGNC]
- WEE1:WEE1 G2 checkpoint kinase [Gene - OMIM - HGNC]
- ASCL2:achaete-scute family bHLH transcription factor 2 [Gene - OMIM - HGNC]
- ASCL3:achaete-scute family bHLH transcription factor 3 [Gene - OMIM - HGNC]
- AP2A2:adaptor related protein complex 2 subunit alpha 2 [Gene - OMIM - HGNC]
- AMPD3:adenosine monophosphate deaminase 3 [Gene - OMIM - HGNC]
- ADM:adrenomedullin [Gene - OMIM - HGNC]
- APBB1:amyloid beta precursor protein binding family B member 1 [Gene - OMIM - HGNC]
- ANO9:anoctamin 9 [Gene - OMIM - HGNC]
- B4GALNT4:beta-1,4-N-acetyl-galactosaminyltransferase 4 [Gene - OMIM - HGNC]
- CDHR5:cadherin related family member 5 [Gene - OMIM - HGNC]
- CRACR2B:calcium release activated channel regulator 2B [Gene - OMIM - HGNC]
- CSNK2A3:casein kinase 2 alpha 3 [Gene - HGNC]
- CTSD:cathepsin D [Gene - OMIM - HGNC]
- CAVIN3:caveolae associated protein 3 [Gene - OMIM - HGNC]
- CEND1:cell cycle exit and neuronal differentiation 1 [Gene - OMIM - HGNC]
- CHID1:chitinase domain containing 1 [Gene - OMIM - HGNC]
- CCKBR:cholecystokinin B receptor [Gene - OMIM - HGNC]
- CHRNA10:cholinergic receptor nicotinic alpha 10 subunit [Gene - OMIM - HGNC]
- C11orf16:chromosome 11 open reading frame 16 [Gene - HGNC]
- C11orf21:chromosome 11 open reading frame 21 [Gene - OMIM - HGNC]
- C11orf42:chromosome 11 open reading frame 42 [Gene - HGNC]
- C11orf40:chromosome 11 putative open reading frame 40 [Gene - HGNC]
- CIMAP1A:ciliary microtubule associated protein 1A [Gene - OMIM - HGNC]
- CNGA4:cyclic nucleotide gated channel subunit alpha 4 [Gene - OMIM - HGNC]
- CDKN1C:cyclin dependent kinase inhibitor 1C [Gene - OMIM - HGNC]
- CARS1:cysteinyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
- CYB5R2:cytochrome b5 reductase 2 [Gene - OMIM - HGNC]
- DCHS1:dachsous cadherin-related 1 [Gene - OMIM - HGNC]
- DKK3:dickkopf WNT signaling pathway inhibitor 3 [Gene - OMIM - HGNC]
- DRD4:dopamine receptor D4 [Gene - OMIM - HGNC]
- DUSP8:dual specificity phosphatase 8 [Gene - OMIM - HGNC]
- DNHD1:dynein heavy chain domain 1 [Gene - OMIM - HGNC]
- EIF3F:eukaryotic translation initiation factor 3 subunit F [Gene - OMIM - HGNC]
- EIF4G2:eukaryotic translation initiation factor 4 gamma 2 [Gene - OMIM - HGNC]
- GATD1:glutamine amidotransferase class 1 domain containing 1 [Gene - HGNC]
- HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
- HBD:hemoglobin subunit delta [Gene - OMIM - HGNC]
- HBE1:hemoglobin subunit epsilon 1 [Gene - OMIM - HGNC]
- HBG1:hemoglobin subunit gamma 1 [Gene - OMIM - HGNC]
- HBG2:hemoglobin subunit gamma 2 [Gene - OMIM - HGNC]
- HPX:hemopexin [Gene - OMIM - HGNC]
- IPO7:importin 7 [Gene - OMIM - HGNC]
- IRAG1:inositol 1,4,5-triphosphate receptor associated 1 [Gene - OMIM - HGNC]
- IGF2:insulin like growth factor 2 [Gene - OMIM - HGNC]
- INS:insulin [Gene - OMIM - HGNC]
- ILK:integrin linked kinase [Gene - OMIM - HGNC]
- IFITM10:interferon induced transmembrane protein 10 [Gene - OMIM - HGNC]
- IFITM1:interferon induced transmembrane protein 1 [Gene - OMIM - HGNC]
- IFITM2:interferon induced transmembrane protein 2 [Gene - OMIM - HGNC]
- IFITM3:interferon induced transmembrane protein 3 [Gene - OMIM - HGNC]
- IFITM5:interferon induced transmembrane protein 5 [Gene - OMIM - HGNC]
- IRF7:interferon regulatory factor 7 [Gene - OMIM - HGNC]
- KRTAP5-1:keratin associated protein 5-1 [Gene - OMIM - HGNC]
- KRTAP5-2:keratin associated protein 5-2 [Gene - HGNC]
- KRTAP5-3:keratin associated protein 5-3 [Gene - HGNC]
- KRTAP5-4:keratin associated protein 5-4 [Gene - HGNC]
- KRTAP5-5:keratin associated protein 5-5 [Gene - HGNC]
- KRTAP5-6:keratin associated protein 5-6 [Gene - HGNC]
- LMNTD2:lamin tail domain containing 2 [Gene - HGNC]
- LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]
- LYVE1:lymphatic vessel endothelial hyaluronan receptor 1 [Gene - OMIM - HGNC]
- LSP1:lymphocyte specific protein 1 [Gene - OMIM - HGNC]
- MMP26:matrix metallopeptidase 26 [Gene - OMIM - HGNC]
- MIR210:microRNA 210 [Gene - OMIM - HGNC]
- MICAL2:microtubule associated monooxygenase, calponin and LIM domain containing 2 [Gene - OMIM - HGNC]
- MRPL17:mitochondrial ribosomal protein L17 [Gene - OMIM - HGNC]
- MRPL23:mitochondrial ribosomal protein L23 [Gene - OMIM - HGNC]
- MUC2:mucin 2, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
- MUC5AC:mucin 5AC, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
- MUC5B:mucin 5B, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
- MUC6:mucin 6, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
- NRIP3:nuclear receptor interacting protein 3 [Gene - OMIM - HGNC]
- NUP98:nucleoporin 98 and 96 precursor [Gene - OMIM - HGNC]
- NAP1L4:nucleosome assembly protein 1 like 4 [Gene - OMIM - HGNC]
- OLFML1:olfactomedin like 1 [Gene - HGNC]
- OR10A2:olfactory receptor family 10 subfamily A member 2 [Gene - HGNC]
- OR10A3:olfactory receptor family 10 subfamily A member 3 [Gene - HGNC]
- OR10A4:olfactory receptor family 10 subfamily A member 4 [Gene - HGNC]
- OR10A5:olfactory receptor family 10 subfamily A member 5 [Gene - OMIM - HGNC]
- OR10A6:olfactory receptor family 10 subfamily A member 6 (gene/pseudogene) [Gene - HGNC]
- OR2AG1:olfactory receptor family 2 subfamily AG member 1 [Gene - HGNC]
- OR2AG2:olfactory receptor family 2 subfamily AG member 2 [Gene - HGNC]
- OR2D2:olfactory receptor family 2 subfamily D member 2 [Gene - OMIM - HGNC]
- OR2D3:olfactory receptor family 2 subfamily D member 3 [Gene - HGNC]
- OR5P2:olfactory receptor family 5 subfamily P member 2 [Gene - HGNC]
- OR5P3:olfactory receptor family 5 subfamily P member 3 [Gene - HGNC]
- OR51A2:olfactory receptor family 51 subfamily A member 2 [Gene - HGNC]
- OR51A4:olfactory receptor family 51 subfamily A member 4 [Gene - HGNC]
- OR51A7:olfactory receptor family 51 subfamily A member 7 [Gene - HGNC]
- OR51B2:olfactory receptor family 51 subfamily B member 2 [Gene - HGNC]
- OR51B4:olfactory receptor family 51 subfamily B member 4 [Gene - HGNC]
- OR51B5:olfactory receptor family 51 subfamily B member 5 [Gene - HGNC]
- OR51B6:olfactory receptor family 51 subfamily B member 6 [Gene - HGNC]
- OR51D1:olfactory receptor family 51 subfamily D member 1 [Gene - HGNC]
- OR51E1:olfactory receptor family 51 subfamily E member 1 [Gene - OMIM - HGNC]
- OR51E2:olfactory receptor family 51 subfamily E member 2 [Gene - OMIM - HGNC]
- OR51F1:olfactory receptor family 51 subfamily F member 1 [Gene - HGNC]
- OR51F2:olfactory receptor family 51 subfamily F member 2 [Gene - HGNC]
- OR51G1:olfactory receptor family 51 subfamily G member 1 [Gene - HGNC]
- OR51G2:olfactory receptor family 51 subfamily G member 2 [Gene - HGNC]
- OR51I1:olfactory receptor family 51 subfamily I member 1 [Gene - HGNC]
- OR51I2:olfactory receptor family 51 subfamily I member 2 [Gene - HGNC]
- OR51L1:olfactory receptor family 51 subfamily L member 1 [Gene - HGNC]
- OR51M1:olfactory receptor family 51 subfamily M member 1 [Gene - HGNC]
- OR51Q1:olfactory receptor family 51 subfamily Q member 1 [Gene - HGNC]
- OR51S1:olfactory receptor family 51 subfamily S member 1 [Gene - HGNC]
- OR51T1:olfactory receptor family 51 subfamily T member 1 [Gene - HGNC]
- OR51V1:olfactory receptor family 51 subfamily V member 1 [Gene - HGNC]
- OR52A1:olfactory receptor family 52 subfamily A member 1 [Gene - HGNC]
- OR52A5:olfactory receptor family 52 subfamily A member 5 [Gene - HGNC]
- OR52B2:olfactory receptor family 52 subfamily B member 2 [Gene - HGNC]
- OR52B4:olfactory receptor family 52 subfamily B member 4 [Gene - HGNC]
- OR52B6:olfactory receptor family 52 subfamily B member 6 [Gene - HGNC]
- OR52D1:olfactory receptor family 52 subfamily D member 1 [Gene - HGNC]
- OR52E2:olfactory receptor family 52 subfamily E member 2 [Gene - HGNC]
- OR52E4:olfactory receptor family 52 subfamily E member 4 [Gene - HGNC]
- OR52E6:olfactory receptor family 52 subfamily E member 6 [Gene - HGNC]
- OR52E8:olfactory receptor family 52 subfamily E member 8 [Gene - HGNC]
- OR52H1:olfactory receptor family 52 subfamily H member 1 [Gene - HGNC]
- OR52I1:olfactory receptor family 52 subfamily I member 1 [Gene - HGNC]
- OR52I2:olfactory receptor family 52 subfamily I member 2 [Gene - HGNC]
- OR52J3:olfactory receptor family 52 subfamily J member 3 [Gene - HGNC]
- OR52K1:olfactory receptor family 52 subfamily K member 1 [Gene - HGNC]
- OR52K2:olfactory receptor family 52 subfamily K member 2 [Gene - HGNC]
- OR52L1:olfactory receptor family 52 subfamily L member 1 [Gene - HGNC]
- OR52M1:olfactory receptor family 52 subfamily M member 1 [Gene - HGNC]
- OR52N1:olfactory receptor family 52 subfamily N member 1 [Gene - HGNC]
- OR52N2:olfactory receptor family 52 subfamily N member 2 [Gene - HGNC]
- OR52N4:olfactory receptor family 52 subfamily N member 4 [Gene - HGNC]
- OR52N5:olfactory receptor family 52 subfamily N member 5 [Gene - HGNC]
- OR52R1:olfactory receptor family 52 subfamily R member 1 [Gene - HGNC]
- OR52W1:olfactory receptor family 52 subfamily W member 1 [Gene - HGNC]
- OR56A1:olfactory receptor family 56 subfamily A member 1 [Gene - HGNC]
- OR56A3:olfactory receptor family 56 subfamily A member 3 [Gene - HGNC]
- OR56A4:olfactory receptor family 56 subfamily A member 4 [Gene - HGNC]
- OR56A5:olfactory receptor family 56 subfamily A member 5 [Gene - HGNC]
- OR56B1:olfactory receptor family 56 subfamily B member 1 [Gene - HGNC]
- OR56B4:olfactory receptor family 56 subfamily B member 4 [Gene - HGNC]
- OR6A2:olfactory receptor family 6 subfamily A member 2 [Gene - OMIM - HGNC]
- OVCH2:ovochymase 2 [Gene - OMIM - HGNC]
- OSBPL5:oxysterol binding protein like 5 [Gene - OMIM - HGNC]
- PIDD1:p53-induced death domain protein 1 [Gene - OMIM - HGNC]
- PARVA:parvin alpha [Gene - OMIM - HGNC]
- PNPLA2:patatin like phospholipase domain containing 2 [Gene - OMIM - HGNC]
- PTDSS2:phosphatidylserine synthase 2 [Gene - OMIM - HGNC]
- PKP3:plakophilin 3 [Gene - OMIM - HGNC]
- PHLDA2:pleckstrin homology like domain family A member 2 [Gene - OMIM - HGNC]
- GALNT18:polypeptide N-acetylgalactosaminyltransferase 18 [Gene - OMIM - HGNC]
- PGAP2:post-GPI attachment to proteins 2 [Gene - OMIM - HGNC]
- KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
- PSMD13:proteasome 26S subunit, non-ATPase 13 [Gene - OMIM - HGNC]
- PGGHG:protein-glucosylgalactosylhydroxylysine glucosidase [Gene - OMIM - HGNC]
- RHOG:ras homolog family member G [Gene - OMIM - HGNC]
- RNH1:ribonuclease/angiogenin inhibitor 1 [Gene - OMIM - HGNC]
- RRM1:ribonucleotide reductase catalytic subunit M1 [Gene - OMIM - HGNC]
- RRP8:ribosomal RNA processing 8 [Gene - OMIM - HGNC]
- RPL27A:ribosomal protein L27a [Gene - OMIM - HGNC]
- RPLP2:ribosomal protein lateral stalk subunit P2 [Gene - OMIM - HGNC]
- RNF141:ring finger protein 141 [Gene - OMIM - HGNC]
- SCT:secretin [Gene - OMIM - HGNC]
- SCGB1C1:secretoglobin family 1C member 1 [Gene - OMIM - HGNC]
- STK33:serine/threonine kinase 33 [Gene - OMIM - HGNC]
- SCUBE2:signal peptide, CUB domain and EGF like domain containing 2 [Gene - OMIM - HGNC]
- SIGIRR:single Ig and TIR domain containing [Gene - OMIM - HGNC]
- SIRT3:sirtuin 3 [Gene - OMIM - HGNC]
- SNORA3B:small nucleolar RNA, H/ACA box 3B [Gene - OMIM - HGNC]
- SLC22A18:solute carrier family 22 member 18 [Gene - OMIM - HGNC]
- SLC25A22:solute carrier family 25 member 22 [Gene - OMIM - HGNC]
- SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]
- STIM1:stromal interaction molecule 1 [Gene - OMIM - HGNC]
- SWAP70:switching B cell complex subunit SWAP70 [Gene - OMIM - HGNC]
- SYT8:synaptotagmin 8 [Gene - OMIM - HGNC]
- SYT9:synaptotagmin 9 [Gene - OMIM - HGNC]
- TSPAN32:tetraspanin 32 [Gene - OMIM - HGNC]
- TSPAN4:tetraspanin 4 [Gene - OMIM - HGNC]
- TOLLIP:toll interacting protein [Gene - OMIM - HGNC]
- TALDO1:transaldolase 1 [Gene - OMIM - HGNC]
- TRPM5:transient receptor potential cation channel subfamily M member 5 [Gene - OMIM - HGNC]
- TIMM10B:translocase of inner mitochondrial membrane 10B [Gene - OMIM - HGNC]
- TMEM41B:transmembrane protein 41B [Gene - OMIM - HGNC]
- TMEM80:transmembrane protein 80 [Gene - OMIM - HGNC]
- TRIM21:tripartite motif containing 21 [Gene - OMIM - HGNC]
- TRIM22:tripartite motif containing 22 [Gene - OMIM - HGNC]
- TRIM34:tripartite motif containing 34 [Gene - OMIM - HGNC]
- TRIM3:tripartite motif containing 3 [Gene - OMIM - HGNC]
- TRIM5:tripartite motif containing 5 [Gene - OMIM - HGNC]
- TRIM66:tripartite motif containing 66 [Gene - OMIM - HGNC]
- TRIM68:tripartite motif containing 68 [Gene - OMIM - HGNC]
- TRIM6:tripartite motif containing 6 [Gene - OMIM - HGNC]
- TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
- TNNI2:troponin I2, fast skeletal type [Gene - OMIM - HGNC]
- TNNT3:troponin T3, fast skeletal type [Gene - OMIM - HGNC]
- TSSC4:tumor suppressing subtransferable candidate 4 [Gene - OMIM - HGNC]
- TH:tyrosine hydroxylase [Gene - OMIM - HGNC]
- UBQLN3:ubiquilin 3 [Gene - OMIM - HGNC]
- UBQLNL:ubiquilin like [Gene - HGNC]
- USP47:ubiquitin specific peptidase 47 [Gene - OMIM - HGNC]
- ZBED5:zinc finger BED-type containing 5 [Gene - OMIM - HGNC]
- ZNF143:zinc finger protein 143 [Gene - OMIM - HGNC]
- ZNF195:zinc finger protein 195 [Gene - OMIM - HGNC]
- ZNF214:zinc finger protein 214 [Gene - OMIM - HGNC]
- ZNF215:zinc finger protein 215 [Gene - OMIM - HGNC]
- Variant type:
- copy number gain
- Cytogenetic location:
- 11p15.5-15.3
- Genomic location:
- Chr11: 193146 - 12643136 (on Assembly GRCh37)
- Preferred name:
- GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)
- Observations:
- 1
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000898189 | Baylor Genetics | criteria provided, single submitter (ACMG CNV Guidelines, 2011) | Pathogenic (Nov 1, 2018) | de novo | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | de novo | yes | 1 | 1 | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..
Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.
PubMed [citation]
- PMID:
- 21681106
Details of each submission
From Baylor Genetics, SCV000898189.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | de novo | yes | not provided | not provided | not provided | 1 | not provided | 1 | not provided |
Last Updated: Sep 1, 2024