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Mendeliome

Gene: WASHC3

Red List (low evidence)

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

2 reviews

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.
Created: 15 Jan 2025, 5:22 a.m. | Last Modified: 15 Jan 2025, 5:22 a.m.
Panel Version: 1.2253

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder MONDO:0700092, WASHC3 related

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Three unrelated families with short stature, distinctive facies and neurodevelopmental abnormalities. Two different rare missense variants were identified between the three families (c.207A>C:p.L69F and c.1A>T, p.M1?).
In vitro functional assay was conducted on both variants showing impaired protein function supportive of disease mechanism.
Sources: Literature
Created: 5 Jan 2025, 10:59 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
neurodevelopmental disorder MONDO:0700092

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
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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WASHC3 were changed from neurodevelopmental disorder MONDO:0700092 to neurodevelopmental disorder MONDO:0700092, WASHC3 related

15 Jan 2025, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: WASHC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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).

5 Jan 2025, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: WASHC3 was added gene: WASHC3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: WASHC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 Review for gene: WASHC3 was set to GREEN