Gene Symbol:
WAC
HGNC:17327
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
10p12.1
Filters:

Definitive classifications

intellectual disability, autosomal dominant 40
Submitted as: OMIM:616579
AD
07/22/2015
Evaluated
11/25/2020
Submitted
DeSanto-Shinawi syndrome due to WAC point mutation
Submitted as: OMIM:616708
AD
01/08/2016
Evaluated
09/11/2023
Submitted
DeSanto-Shinawi syndrome
AD
11/10/2022
Evaluated
04/21/2024
Submitted

Strong classifications

DeSanto-Shinawi syndrome due to WAC point mutation
AD
07/28/2020
Evaluated
10/15/2020
Submitted
Illumina
Evidence: WAC was first reported in relation to autosomal dominant Desanto-Shinawi syndrome in 2014 (25356899:... Read more
DeSanto-Shinawi syndrome due to WAC point mutation
Submitted as: OMIM:616708
AD
07/05/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

DeSanto-Shinawi syndrome due to WAC point mutation
Submitted as: Orphanet:466950
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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