Joubert syndrome and other neurological ciliopathies

Gene: POC1B

Comment when marking as ready: Mostly ocular phenotype consistent with ciliopathy, insufficient reports to support association with JS/brain phenotypes.

Created: 14 May 2020, 6:49 a.m. | Last Modified: 14 May 2020, 6:49 a.m.

Panel Version: 0.57

Red List (low evidence)

PMID: 25044745 - 1 homozygous family (missense) with leber congenital amaurosis, JS and polycystic kidney disease. 13 healthy relatives were wildtype or heterozygous carriers only.
MRI shows MTS, cerebellar vermis hypoplasia and malorientated cerebellar peduncles.
Null zebrafish model had cystic kidney and retinal degeneration - no mention of JS features.

PMID: 31390656 - 7 families (8 patients) either chet (PTC/missense) or homozygous (missense) with retinopathies. No mention of JS-related phenotypes eg. polydactyly, brain malformation, intellectual disability

PMID: 25018096 - 1 homozygous family (missense) with cone rod dystrophy. No mention of JS-related phenotypes eg. polydactyly, brain malformation, intellectual disability

Summary: single example of JS, doesnt seem to correlate with a particular genotype
Sources: Expert list

Created: 13 May 2020, 4:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 20 615973

Publications

• PMID: 25044745
• 31390656
• 25018096