Neurological ciliopathies
Gene: TOGARAM1
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
Six families reported with features of a ciliopathy, including molar tooth sign.
Sources: LiteratureCreated: 5 Mar 2021, 6:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 37, MIM# 619185
Publications
Tag Q2_23_promote_green was removed from gene: TOGARAM1.
Source Expert Review Green was added to TOGARAM1. Source NHS GMS was added to TOGARAM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: TOGARAM1.
Gene: togaram1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TOGARAM1 were changed from Joubert syndrome 37, MIM# 619185 to Joubert syndrome 37, OMIM:619185; Joubert syndrome 37, MONDO:0030933
gene: TOGARAM1 was added gene: TOGARAM1 was added to Neurological ciliopathies. Sources: Literature Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32747439; 32453716 Phenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MIM# 619185 Review for gene: TOGARAM1 was set to GREEN