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Fetal anomalies

Gene: WASHC3

Red List (low evidence)
WASHC3 (WASH complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000120860
EnsemblGeneIds (GRCh37): ENSG00000120860
WASHC3 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Tessa Homfray (Consultant HNS)

Red List (low evidence)

1 family with de novo missense variant and 2 families with homozygous start loss variants. Short stature, neurodevelopmental abnormalities and facial dysmorphism. No prenatal presentation reported.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
short stature, distinctive facies, and neurodevelopmental abnormalities

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • short stature, distinctive facies, and neurodevelopmental abnormalities
Clinvar variants
Variants in WASHC3
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes short stature, distinctive facies, and neurodevelopmental abnormalities for gene: WASHC3

9 Mar 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: WASHC3 was added gene: WASHC3 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: WASHC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal