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Mendeliome

Gene: WAC

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioural problems.

26 individuals with SNVs reported, additional ones with CNVs.
Created: 13 May 2022, 9:04 a.m. | Last Modified: 13 May 2022, 9:04 a.m.
Panel Version: 0.14244

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Desanto-Shinawi syndrome, MIM# 616708

Publications

Details

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

History Filter Activity

13 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WAC were changed from to Desanto-Shinawi syndrome, MIM# 616708

13 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WAC were set to

13 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WAC was added gene: WAC was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WAC was set to Unknown