NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter) AND Hydrocephalus, congenital, 3, with brain anomalies

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 10, 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:: RCV000660889.2

Allele description [Variation Report for NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)]

NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)

Gene:

WDR81:WD repeat domain 81 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.3

Genomic location:

Preferred name:

NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)

HGVS:

NC_000017.11:g.1728245C>T
NG_032811.1:g.16723C>T
NM_001163673.2:c.59-2135C>T
NM_001163809.2:c.3286C>TMANE SELECT
NM_001163811.2:c.-14-2135C>T
NM_152348.4:c.133C>T
NP_001157281.1:p.Gln1096Ter
NP_001157281.1:p.Gln1096Ter
NP_689561.2:p.Gln45Ter
NC_000017.10:g.1631539C>T
NM_001163809.1:c.3286C>T

Protein change:

Q1096*; GLN1096TER

Links:

OMIM: 614218.0003; dbSNP: rs770279237

NCBI 1000 Genomes Browser:

rs770279237

Molecular consequence:

NM_001163673.2:c.59-2135C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001163811.2:c.-14-2135C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001163809.2:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_152348.4:c.133C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hydrocephalus, congenital, 3, with brain anomalies
Synonyms:: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3
Identifiers:: MONDO: MONDO:0054794; MedGen: C4747885; OMIM: 617967

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000783122	OMIM	no assertion criteria provided	Pathogenic (Jul 10, 2018)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000783122

OMIM

no assertion criteria provided

Pathogenic
(Jul 10, 2018)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The genetic landscape of familial congenital hydrocephalus.

Shaheen R, Sebai MA, Patel N, Ewida N, Kurdi W, Altweijri I, Sogaty S, Almardawi E, Seidahmed MZ, Alnemri A, Madirevula S, Ibrahim N, Abdulwahab F, Hashem M, Al-Sheddi T, Alomar R, Alobeid E, Sallout B, AlBaqawi B, AlAali W, Ajaji N, Lesmana H, et al.

Ann Neurol. 2017 Jun;81(6):890-897. doi: 10.1002/ana.24964.

PubMed [citation]

PMID:: 28556411

Details of each submission

From OMIM, SCV000783122.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient, conceived of consanguineous Saudi parents (family 13), with congenital hydrocephalus-3 with brain anomalies (HYC3; 617967), Shaheen et al. (2017) identified a homozygous c.3286C-T transition (c.3286C-T, NM_001163809.1) in the WDR81 gene, resulting in a gln1096-to-ter (Q1096X) substitution. The mutation, which was found by exome sequencing of a 'neuro panel,' was confirmed by Sanger sequencing and segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Jan 13, 2025

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