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Intellectual disability syndromic and non-syndromic

Gene: WNT1

Green List (high evidence)

WNT1 (Wnt family member 1)
EnsemblGeneIds (GRCh38): ENSG00000125084
EnsemblGeneIds (GRCh37): ENSG00000125084
OMIM: 164820, Gene2Phenotype
WNT1 is in 10 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ID reported in this type of OI.

Aldinger et al. (2016) reviewed the developmental outcomes and brain imaging studies of 6 patients with genetically confirmed OI15. Five of 6 individuals had cerebellar hypoplasia. Five of 6 patients had severe intellectual disability, and the sixth patient, with the Chiari malformation, had mild autism. Suspected relationship between severity of the intellectual disability and brainstem-cerebellar hypoplasia, but there were no apparent genotype/phenotype correlations.
Created: 4 Dec 2019, 10:13 p.m. | Last Modified: 4 Dec 2019, 10:13 p.m.
Panel Version: 0.348

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XV; OMIM# 615220

Publications

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnt1 has been classified as Green List (High Evidence).

4 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from WNT1. Source Expert list was added to WNT1. Mode of inheritance for gene WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV; OMIM# 615220

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WNT1 was added gene: WNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WNT1 was set to Unknown