GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226) AND 10q11.22q11.23 microdeletion including CHAT and SLC18A3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 17, 2020
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:
RCV001255694.2

Allele description [Variation Report for GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226)]

GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226)

Genes:
  • AGAP10:ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 [Gene]
  • AGAP6:ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 [Gene - HGNC]
  • AGAP9:ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 [Gene - HGNC]
  • ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
  • FRMPD2:FERM and PDZ domain containing 2 [Gene - OMIM - HGNC]
  • GPRIN2:G protein regulated inducer of neurite outgrowth 2 [Gene - OMIM - HGNC]
  • ARHGAP22:Rho GTPase activating protein 22 [Gene - OMIM - HGNC]
  • VSTM4:V-set and transmembrane domain containing 4 [Gene - HGNC]
  • WDFY4:WDFY family member 4 [Gene - OMIM - HGNC]
  • ANXA8L1:annexin A8 like 1 [Gene - HGNC]
  • ANXA8:annexin A8 [Gene - OMIM - HGNC]
  • CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
  • C10orf53:chromosome 10 open reading frame 53 [Gene - HGNC]
  • C10orf71:chromosome 10 open reading frame 71 [Gene - HGNC]
  • DRGX:dorsal root ganglia homeobox [Gene - OMIM - HGNC]
  • FAM170B:family with sequence similarity 170 member B [Gene - HGNC]
  • FAM25C:family with sequence similarity 25 member C [Gene - HGNC]
  • FAM25G:family with sequence similarity 25 member G [Gene - HGNC]
  • GDF10:growth differentiation factor 10 [Gene - OMIM - HGNC]
  • GDF2:growth differentiation factor 2 [Gene - OMIM - HGNC]
  • LRRC18:leucine rich repeat containing 18 [Gene - OMIM - HGNC]
  • MSMB:microseminoprotein beta [Gene - OMIM - HGNC]
  • MAPK8:mitogen-activated protein kinase 8 [Gene - OMIM - HGNC]
  • NPY4R:neuropeptide Y receptor Y4 [Gene - OMIM - HGNC]
  • NCOA4:nuclear receptor coactivator 4 [Gene - OMIM - HGNC]
  • OGDHL:oxoglutarate dehydrogenase L [Gene - OMIM - HGNC]
  • PGBD3:piggyBac transposable element derived 3 [Gene - HGNC]
  • PARG:poly(ADP-ribose) glycohydrolase [Gene - OMIM - HGNC]
  • PTPN20:protein tyrosine phosphatase non-receptor type 20 [Gene - OMIM - HGNC]
  • RBP3:retinol binding protein 3 [Gene - OMIM - HGNC]
  • SLC18A3:solute carrier family 18 member A3 [Gene - OMIM - HGNC]
  • SYT15:synaptotagmin 15 [Gene - OMIM - HGNC]
  • TIMM23:translocase of inner mitochondrial membrane 23 [Gene - OMIM - HGNC]
  • TMEM273:transmembrane protein 273 [Gene - HGNC]
  • ZNF488:zinc finger protein 488 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
10q11.22-11.23
Genomic location:
Chr10: 46964973 - 51826226 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226)
HGVS:
NC_000010.10:g.(?_46964973)_(51826226_?)del
Observations:
1

Condition(s)

Name:
10q11.22q11.23 microdeletion including CHAT and SLC18A3
Identifiers:

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001431558Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
no assertion criteria provided
Pathogenic
(Aug 17, 2020)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ, SCV001431558.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

PMID: 21948486; PMID: 20466309; PMID: 31690835

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 1, 2023