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Fetal anomalies

Gene: WASHC5

Green List (high evidence)

WASHC5 (WASH complex subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000164961
EnsemblGeneIds (GRCh37): ENSG00000164961
OMIM: 610657, Gene2Phenotype
WASHC5 is in 8 panels

3 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established for Ritscher-Schinzel syndrome, congenital heart defects and skeletal features such as absent ribs are part of the phenotype.
Created: 26 Mar 2024, 3:22 a.m. | Last Modified: 26 Mar 2024, 3:22 a.m.
Panel Version: 1.218

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ritscher-Schinzel syndrome 1 MIM#220210

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Multiple congenital anomalies however, only a founder variant reported so far.
Created: 23 Feb 2022, 4:38 a.m. | Last Modified: 23 Feb 2022, 4:38 a.m.
Panel Version: 0.3977

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ritscher-Schinzel syndrome 1, MIM# 220210

Chirag Patel (Genetic Health Queensland)

I don't know

Comment on list classification: reviewed with Z.Stark - one family with founder mutation
Created: 5 Dec 2019, 3:30 a.m. | Last Modified: 5 Dec 2019, 3:30 a.m.
Panel Version: 0.468
No ID seen in HSP8, but seen in Ritscher-Schinzel syndrome (isolated remote community).

Elliott et al. (2013) reported Ritscher-Schinzel syndrome in First Nation patients from an isolated, remote community in northern Manitoba, Canada. Eleven patients were found to carry the same homozygous splice site mutation in the KIAA0196 gene (610657.0004), consistent with a founder effect.
Created: 4 Dec 2019, 10:28 p.m. | Last Modified: 4 Dec 2019, 10:28 p.m.
Panel Version: 0.357

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 8, autosomal dominant, OMIM #603563; Ritscher-Schinzel syndrome 1; OMIM #220210

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Ritscher-Schinzel syndrome 1, MIM# 220210
Tags
founder
OMIM
610657
Clinvar variants
Variants in WASHC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: washc5 has been classified as Green List (High Evidence).

23 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: washc5 has been classified as Red List (Low Evidence).

23 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WASHC5 were changed from Ritscher-Schinzel syndrome 1 220210; Spastic paraplegia 8, autosomal dominant 603563 to Ritscher-Schinzel syndrome 1, MIM# 220210

23 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WASHC5 were set to

23 Feb 2022, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: WASHC5.

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WASHC5 was added gene: WASHC5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WASHC5 were set to Ritscher-Schinzel syndrome 1 220210; Spastic paraplegia 8, autosomal dominant 603563