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Fetal anomalies

Gene: WAC

Red List (low evidence)

WAC (WW domain containing adaptor with coiled-coil)
EnsemblGeneIds (GRCh38): ENSG00000095787
EnsemblGeneIds (GRCh37): ENSG00000095787
OMIM: 615049, Gene2Phenotype
WAC is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Clinical presentation is typically post-natal.
Created: 23 Feb 2022, 4:36 a.m. | Last Modified: 23 Feb 2022, 4:36 a.m.
Panel Version: 0.3974

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Desanto-Shinawi syndrome, MIM# 616708

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Desanto-Shinawi syndrome 616708

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Desanto-Shinawi syndrome, MIM# 616708
OMIM
615049
Clinvar variants
Variants in WAC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wac 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: WAC were changed from INTELLECTUAL DISABILITY; WAC syndrome to Desanto-Shinawi syndrome, MIM# 616708

23 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WAC were set to

23 Feb 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: WAC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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: WAC was added gene: WAC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY; WAC syndrome