Joubert syndrome and other neurological ciliopathies

Gene: WNT1

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)

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

• 26671912
• 23499309
• 23434763