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  2. Intellectual disability syndromic and non-syndromic
  3. WASHC4
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Intellectual disability syndromic and non-syndromic

Gene: WASHC4

Green List (high evidence)
WASHC4 (WASH complex subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000136051
EnsemblGeneIds (GRCh37): ENSG00000136051
OMIM: 615748, Gene2Phenotype
WASHC4 is in 3 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three more individuals from two unrelated families.
Created: 7 Sep 2020, 6:09 a.m. | Last Modified: 7 Sep 2020, 6:09 a.m.
Panel Version: 0.2970

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Sep 2020, 6:09 a.m.
Last Modified: 7 Sep 2020, 6:09 a.m.
Panel version: 0.2970

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Created: 7 Sep 2020, 5:56 a.m.
Last Modified: 7 Sep 2020, 5:56 a.m.
Panel version: 0.2969

Chirag Patel (Genetic Health Queensland)

I don't know

Comment on list classification: r/v with Z.Stark - single family with limited functional evidence
Created: 5 Dec 2019, 3:31 a.m. | Last Modified: 5 Dec 2019, 3:31 a.m.
Panel Version: 0.469
1 family with multiple affected members with nonsyndromic mental retardation - homozygous missense mutation in the KIAA1033 gene. In vitro functional expression studies and analysis of patient cells showed that the mutation destabilized the protein and interfered with the stability of the WASH complex.
Created: 4 Dec 2019, 10:32 p.m. | Last Modified: 4 Dec 2019, 10:32 p.m.
Panel Version: 0.359

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mental retardation, autosomal recessive 43; OMIM #615817

Publications

Created: 4 Dec 2019, 10:32 p.m.
Last Modified: 4 Dec 2019, 10:32 p.m.
Panel version: 0.359

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 43 MIM#615817
OMIM
615748
Clinvar variants
Variants in WASHC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2024, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: WASHC4 were changed from ?Mental retardation, autosomal recessive 43; OMIM #615817 to Intellectual developmental disorder, autosomal recessive 43 MIM#615817

7 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: washc4 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: washc4 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: washc4 has been classified as Red List (Low Evidence).

4 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: washc4 has been classified as Amber List (Moderate Evidence).

4 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from WASHC4. Source Expert list was added to WASHC4. Mode of inheritance for gene WASHC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WASHC4 were changed from to ?Mental retardation, autosomal recessive 43; OMIM #615817 Publications for gene WASHC4 were changed from PubMed: 21498477 to PubMed: 21498477

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WASHC4 was added gene: WASHC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WASHC4 was set to Unknown