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Optic Atrophy v0.104 KLC2 Bryony Thompson Marked gene: KLC2 as ready
Optic Atrophy v0.104 KLC2 Bryony Thompson Gene: klc2 has been classified as Green List (High Evidence).
Optic Atrophy v0.104 KLC2 Bryony Thompson Classified gene: KLC2 as Green List (high evidence)
Optic Atrophy v0.104 KLC2 Bryony Thompson Added comment: Comment on list classification: Only reported cause of condition is the upstream large deletion, which is not detected by whole-exome sequencing.
Optic Atrophy v0.104 KLC2 Bryony Thompson Gene: klc2 has been classified as Green List (High Evidence).
Optic Atrophy v0.103 KLC2 Bryony Thompson gene: KLC2 was added
gene: KLC2 was added to Optic Atrophy. Sources: Literature
SV/CNV tags were added to gene: KLC2.
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Review for gene: KLC2 was set to GREEN
Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Optic atrophy is a feature of the condition.
Sources: Literature