Joubert syndrome and other neurological ciliopathies

Gene: WNT1

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Agree, not a Joubert syndrome gene, and gene product is not associated with cilia.
Created: 4 May 2020, 2:23 a.m. | Last Modified: 4 May 2020, 2:23 a.m.
Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XV (MIM#615220)

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

Details

History Filter Activity

4 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnt1 has been classified as Red List (Low Evidence).

4 May 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV (MIM#615220)

4 May 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WNT1 were set to

4 May 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

4 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnt1 has been classified as Red List (Low Evidence).

17 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 Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WNT1 was set to Unknown