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Intellectual disability

Gene: WASHC4

Amber List (moderate evidence)

WASHC4 (WASH complex subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000136051
EnsemblGeneIds (GRCh37): ENSG00000136051
OMIM: 615748, Gene2Phenotype
WASHC4 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Amber in view of mild/borderline ID in 2/3 families. Additional cases with a more significant manifestation of ID required before inclusion of WASHC4 on a diagnostic panel.
Created: 21 Sep 2020, 2:30 p.m. | Last Modified: 21 Sep 2020, 2:30 p.m.
Panel Version: 3.326
- PMID: 21498477 (2011) - Seven affected individuals from a large consanguineous family with non-syndromic moderate-severe ID (IQ 35–50), associated with a homozygous missense variants (c.3056C>G) in WASHC4. The variant segregated with the phenotype, and in vitro studies suggested it destabilises the protein product and consequently, the WASH complex. Another segregating homozygous variant (c.1085A>T) was also identified in the LHX5 gene, but was deemed non-pathogenic.

- PMID: 31953988 (2020) - Three patients from two unrelated families with syndromic ID due to compound heterozygous WASHC4 variants. One family comprised two affected sibs with learning disabilities, macrocephaly, dysmorphic features, skeletal anomalies, and abnormalities on brain MRI. Neuropsychological evaluation of the older sister at age 7y5m, revealed a nonverbal IQ of 73 (borderline), but other subtests could not be complete in a context of mixed receptive‐expressive language disorder and ADHD. Evaluation of the younger sister at 5y2m revealed a full scale IQ of 69 (mild ID). The third patient was aged 34 years and presented with mild ID, short stature, and microcephaly. No functional studies were performed.
Created: 21 Sep 2020, 2:22 p.m. | Last Modified: 21 Sep 2020, 2:22 p.m.
Panel Version: 3.325

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 43, 615817

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Sources: Literature
Created: 8 Sep 2020, 10:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 43, MIM #615817

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mental retardation, autosomal recessive 43, 615817
OMIM
615748
Clinvar variants
Variants in WASHC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Sep 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: WASHC4 were changed from Mental retardation, autosomal recessive 43, MIM #615817 to Mental retardation, autosomal recessive 43, 615817

21 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

8 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: WASHC4 was added gene: WASHC4 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: WASHC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WASHC4 were set to 31953988; 21498477 Phenotypes for gene: WASHC4 were set to Mental retardation, autosomal recessive 43, MIM #615817 Review for gene: WASHC4 was set to GREEN gene: WASHC4 was marked as current diagnostic