Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Optic Atrophy v1.25 MCAT Zornitza Stark Phenotypes for gene: MCAT were changed from Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309 to Optic atrophy 15, MIM# 620583
Optic Atrophy v1.24 MCAT Zornitza Stark edited their review of gene: MCAT: Changed phenotypes: Optic atrophy 15, MIM# 620583
Optic Atrophy v1.16 MCAT Seb Lunke Phenotypes for gene: MCAT were changed from Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309 to Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309
Optic Atrophy v1.15 MCAT Seb Lunke Phenotypes for gene: MCAT were changed from progressive autosomal recessive optic neuropathy to Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309
Optic Atrophy v1.14 MCAT Seb Lunke Classified gene: MCAT as Amber List (moderate evidence)
Optic Atrophy v1.14 MCAT Seb Lunke Gene: mcat has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.13 MCAT Seb Lunke Publications for gene: MCAT were set to 31915829
Optic Atrophy v1.12 MCAT Belinda Chong reviewed gene: MCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 33918393, 31915829; Phenotypes: Progressive autosomal recessive optic neuropathy, Leber hereditary optic neuropathy (LHON)-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.102 MCAT Zornitza Stark Marked gene: MCAT as ready
Optic Atrophy v0.102 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Optic Atrophy v0.102 MCAT Zornitza Stark gene: MCAT was added
gene: MCAT was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCAT were set to 31915829
Phenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy
Review for gene: MCAT was set to RED
Added comment: Single family reported.
Sources: Literature