Joubert syndrome and other neurological ciliopathies

Gene: ZIC1

Red List (low evidence)

Transcription factor, no specific link to cilia.

Created: 4 May 2020, 2:36 a.m. | Last Modified: 4 May 2020, 2:36 a.m.

Panel Version: 0.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736)

I don't know

Single paper from 2015 with reports of variants in ZIC1 - unsure if JS phenotype? Amber/Red

PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients

Created: 4 May 2020, 12:12 a.m. | Last Modified: 4 May 2020, 12:17 a.m.

Panel Version: 0.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736)

Publications

• 26340333
• 9412507
• 14981711

Mode of pathogenicity
Other