Neurological ciliopathies

Gene: TOGARAM1

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 10 Oct 2023, 3:10 p.m. | Last Modified: 10 Oct 2023, 3:10 p.m.

Panel Version: 3.12

Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. PMIDs:32747439; 32453716 report seven TOGARAM1 variants in five unrelated cases of Joubert syndrome 37, OMIM:619185. Supportive functional datawas presented PMIDs:32747439; 32453716.

Created: 18 Apr 2023, 4:02 p.m. | Last Modified: 18 Apr 2023, 4:02 p.m.

Panel Version: 3.6

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 18 Apr 2023, 3:56 p.m. | Last Modified: 18 Apr 2023, 3:56 p.m.

Panel Version: 3.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Six families reported with features of a ciliopathy, including molar tooth sign.
Sources: Literature

Created: 5 Mar 2021, 6:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 37, MIM# 619185

Publications

• 32747439
• 32453716