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Optic neuropathy v1.111 TIMM8A Ivone Leong Classified gene: TIMM8A as Amber List (moderate evidence)
Optic neuropathy v1.111 TIMM8A Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TIMM8A is associated with a phenotype in both OMIM and Gene2Phenotype. Optic atrophy appears to be a minor feature of the condition and based on previous reviews, it was decided that not enough evidence is available to promote this to a green. However, if any new variants that explains the phenotype is available in the future then promotion to green gene status can be considered.
Optic neuropathy v1.111 TIMM8A Ivone Leong Gene: timm8a has been classified as Amber List (Moderate Evidence).
Optic neuropathy v1.109 TIMM8A Ivone Leong Publications for gene: TIMM8A were set to 20301395
Optic neuropathy v1.28 TIMM8A Tom Cullup reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 11803487; Phenotypes: deafness-dystonia-optic neuropathy syndrome, Mohr-Tranebjaerg syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Optic neuropathy v1.27 TIMM8A Ivone Leong Source London North GLH was added to TIMM8A.
Optic neuropathy TIMM8A Ellen Thomas marked TIMM8A as ready
Optic neuropathy TIMM8A Ellen Thomas classified TIMM8A as red
Optic neuropathy TIMM8A Ellen Thomas commented on TIMM8A
Optic neuropathy TIMM8A Ellen McDonagh classified TIMM8A as amber
Optic neuropathy TIMM8A Ellen McDonagh commented on TIMM8A
Optic neuropathy TIMM8A Ellen McDonagh classified TIMM8A as amber