WASHC4 Chromosome 12
WASH complex subunit 4
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What This Gene Does
This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
WASH complex
Locus Type
gene with protein product
Location
12q23.3
Ensembl
ENSG00000136051
Associated Conditions (4)
Intellectual disability
autosomal recessive 43
WASHC4-related disorder
Inborn genetic diseases
Key Variants
RS113168943
Conflicting classifications of pathogenicity
Health Risk
RS141620718
Conflicting classifications of pathogenicity
Health Risk
RS191511427
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 43, WASHC4-related disorder
Health Risk
RS201428088
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 43, Intellectual disability
Health Risk
RS35267264
Conflicting classifications of pathogenicity
Inborn genetic diseases, WASHC4-related disorder, Inborn genetic diseases
Health Risk
RS74426960
Conflicting classifications of pathogenicity
Health Risk
RS768574664
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 43, Intellectual disability
Health Risk
RS1064797173
Likely pathogenic
Health Risk
RS1881282106
Likely pathogenic
Intellectual disability, autosomal recessive 43, Intellectual disability
Health Risk
RS2502632564
Likely pathogenic
Intellectual disability, autosomal recessive 43, Intellectual disability
Health Risk
RS2502685643
Likely pathogenic
Intellectual disability, autosomal recessive 43, Intellectual disability
Health Risk
RS748436953
Likely pathogenic
Intellectual disability, autosomal recessive 43, Intellectual disability
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113168943 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141620718 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS191511427 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 43, WASHC4-related disorder |
| RS201428088 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 43, Intellectual disability |
| RS35267264 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, WASHC4-related disorder, Inborn genetic diseases |
| RS74426960 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768574664 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 43, Intellectual disability |
| RS1064797173 | Health Risk | Likely pathogenic | — |
| RS1881282106 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 43, Intellectual disability |
| RS2502632564 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 43, Intellectual disability |
| RS2502685643 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 43, Intellectual disability |
| RS748436953 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 43, Intellectual disability |
| RS1212552985 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 43, Intellectual disability |
| RS2135773055 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 43, Intellectual disability |
| RS587777411 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 43, Intellectual disability |