Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: WASHC3

Red List (low evidence)

WASHC3 (WASH complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000120860
EnsemblGeneIds (GRCh37): ENSG00000120860
WASHC3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One family with de novo missense. Two families with homozygous start loss variant. The functional evidence provided does not directly link to the human phenotype. Given two variants and two different MOIs, RED rating.
Sources: Literature
Created: 15 Jan 2025, 5:23 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder MONDO:0700092, WASHC3 related

Publications

  • DOI: https://doi.org/10.1016/j.gimo.2024.101915

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, WASHC3 related
Clinvar variants
Variants in WASHC3
Penetrance
None
Publications
  • DOI: https://doi.org/10.1016/j.gimo.2024.101915
Panels with this gene

History Filter Activity

15 Jan 2025, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: washc3 has been classified as Red List (Low Evidence).

15 Jan 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WASHC3 was added gene: WASHC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: WASHC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WASHC3 were set to DOI: https://doi.org/10.1016/j.gimo.2024.101915 Phenotypes for gene: WASHC3 were set to neurodevelopmental disorder MONDO:0700092, WASHC3 related Review for gene: WASHC3 was set to RED