GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 18, 2018
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:: RCV001263022.1

Allele description [Variation Report for GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1]

GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1

Genes:

ASXL3:ASXL transcriptional regulator 3 [Gene - OMIM - HGNC]
GAREM1:GRB2 associated regulator of MAPK1 subtype 1 [Gene - OMIM - HGNC]
INO80C:INO80 complex subunit C [Gene - HGNC]
TAF4B:TATA-box binding protein associated factor 4b [Gene - OMIM - HGNC]
AQP4:aquaporin 4 [Gene - OMIM - HGNC]
B4GALT6:beta-1,4-galactosyltransferase 6 [Gene - OMIM - HGNC]
CDH2:cadherin 2 [Gene - OMIM - HGNC]
CHST9:carbohydrate sulfotransferase 9 [Gene - OMIM - HGNC]
C18orf21:chromosome 18 open reading frame 21 [Gene - HGNC]
CCDC178:coiled-coil domain containing 178 [Gene - HGNC]
DSC1:desmocollin 1 [Gene - OMIM - HGNC]
DSC2:desmocollin 2 [Gene - OMIM - HGNC]
DSC3:desmocollin 3 [Gene - OMIM - HGNC]
DSG1:desmoglein 1 [Gene - OMIM - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
DSG3:desmoglein 3 [Gene - OMIM - HGNC]
DSG4:desmoglein 4 [Gene - OMIM - HGNC]
DTNA:dystrobrevin alpha [Gene - OMIM - HGNC]
ELP2:elongator acetyltransferase complex subunit 2 [Gene - OMIM - HGNC]
KLHL14:kelch like family member 14 [Gene - OMIM - HGNC]
MEP1B:meprin A subunit beta [Gene - OMIM - HGNC]
MIR187:microRNA 187 [Gene - OMIM - HGNC]
MAPRE2:microtubule associated protein RP/EB family member 2 [Gene - OMIM - HGNC]
NOL4:nucleolar protein 4 [Gene - OMIM - HGNC]
GALNT1:polypeptide N-acetylgalactosaminyltransferase 1 [Gene - OMIM - HGNC]
KCTD1:potassium channel tetramerization domain containing 1 [Gene - OMIM - HGNC]
RPRD1A:regulation of nuclear pre-mRNA domain containing 1A [Gene - OMIM - HGNC]
RNF125:ring finger protein 125 [Gene - OMIM - HGNC]
RNF138:ring finger protein 138 [Gene - OMIM - HGNC]
SLC25A52:solute carrier family 25 member 52 [Gene - OMIM - HGNC]
SLC39A6:solute carrier family 39 member 6 [Gene - OMIM - HGNC]
TRAPPC8:trafficking protein particle complex subunit 8 [Gene - OMIM - HGNC]
TTR:transthyretin [Gene - OMIM - HGNC]
ZSCAN30:zinc finger and SCAN domain containing 30 [Gene - HGNC]
ZNF24:zinc finger protein 24 [Gene - OMIM - HGNC]
ZNF396:zinc finger protein 396 [Gene - OMIM - HGNC]
ZNF397:zinc finger protein 397 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

18q11.2-12.2

Genomic location:

Chr18: 23971647 - 33737300 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1

HGVS:

NC_000018.9:g.(23971647_?)_(?_33737300)del

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001441097	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq	no assertion criteria provided	Pathogenic (Jul 18, 2018)	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001441097

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq

no assertion criteria provided

Pathogenic
(Jul 18, 2018)

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	1	not provided	research

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001441097.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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