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| Neurological ciliopathies v3.13 | TOGARAM1 | Sarah Leigh Tag Q2_23_promote_green was removed from gene: TOGARAM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.12 | TOGARAM1 | Sarah Leigh edited their review of gene: TOGARAM1: Added comment: 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.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.11 | TOGARAM1 |
Sarah Leigh 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) |
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| Neurological ciliopathies v3.6 | TOGARAM1 | Sarah Leigh Tag Q2_23_promote_green tag was added to gene: TOGARAM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.6 | TOGARAM1 | Sarah Leigh edited their review of gene: TOGARAM1: Added comment: 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.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.6 | TOGARAM1 | Sarah Leigh Classified gene: TOGARAM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.6 | TOGARAM1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.6 | TOGARAM1 | Sarah Leigh Gene: togaram1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v3.5 | TOGARAM1 | Sarah Leigh Phenotypes for gene: TOGARAM1 were changed from Joubert syndrome 37, MIM# 619185 to Joubert syndrome 37, OMIM:619185; Joubert syndrome 37, MONDO:0030933 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.15 | TOGARAM1 |
Zornitza Stark 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 Added comment: Six families reported with features of a ciliopathy, including molar tooth sign. Sources: Literature |
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