Joubert syndrome and other neurological ciliopathies
Gene: WNT1
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)
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
Gene: wnt1 has been classified as Red List (Low Evidence).
Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV (MIM#615220)
Publications for gene: WNT1 were set to
Mode of inheritance for gene: WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: wnt1 has been classified as Red List (Low Evidence).
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