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  3. WNT1
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Fetal anomalies

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

2 reviews

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

WNT1 causes AR OI, brain (cerebellar) malformations not a consistent feature.

PMID: 26671912; Reviewed clinical and brain imaging of 6 patients from 4 families (2 unrelated Hmong fams with same variant, likely founder). Cerebellar hypoplasia in 5 of 6 patients with varied severity. Cerebellar abnormalities inconsistent between the 3 Hmong patients with same variant.

PMID: 23499309; Reported hom variants in 5 consang fams with autosomal-recessive OI. Ataxia, other signs of
cerebellar dysfunction not a key feature, only one patient showed brain malformations.

PMID: 23434763; Reported 3 families with OI, no brain malformations described.
Created: 4 May 2020, 1:06 a.m. | Last Modified: 4 May 2020, 1:06 a.m.
Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XV (MIM#615220)

Publications

Created: 4 May 2020, 1:06 a.m.
Last Modified: 4 May 2020, 1:06 a.m.
Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.20

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

Created: 4 Dec 2019, 10:13 p.m.
Last Modified: 4 Dec 2019, 10:13 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.348

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XV, OMIM:615220
OMIM
164820
Clinvar variants
Variants in WNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

19 Jan 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: WNT1 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WNT1 was added gene: WNT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV, OMIM:615220