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| Optic neuropathy v3.7 | TFG | Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: TFG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.7 | TFG | Achchuthan Shanmugasundram reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.6 | TFG |
Achchuthan Shanmugasundram Source Expert Review Green was added to TFG. Source NHS GMS was added to TFG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Optic neuropathy v2.48 | TFG | Arina Puzriakova Classified gene: TFG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.48 | TFG | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.48 | TFG | Arina Puzriakova Gene: tfg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.47 | TFG |
Arina Puzriakova gene: TFG was added gene: TFG was added to Optic neuropathy. Sources: Literature Q3_21_rating tags were added to gene: TFG. Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFG were set to 23479643; 27492651; 29971521; 30467354 Phenotypes for gene: TFG were set to Spastic paraplegia 57, autosomal recessive, OMIM:615658 Review for gene: TFG was set to GREEN Added comment: Biallelic variants cause a HSP (MIM# 615658) which has been shown to involve early-onset optic atrophy in complex cases. At least 4 unrelated families reported with optic atrophy and variants in this gene (PMIDs: 23479643; 27492651; 29971521; 30467354). Note that monoallelic variants are associated with different phenotype comprising adult-onset neuropathy (MIM# 604484) Sources: Literature |
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