Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.104 HKDC1 Zornitza Stark Marked gene: HKDC1 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.104 HKDC1 Zornitza Stark Gene: hkdc1 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.104 HKDC1 Zornitza Stark gene: HKDC1 was added
gene: HKDC1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert list
Mode of inheritance for gene: HKDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HKDC1 were set to 30085091
Phenotypes for gene: HKDC1 were set to Retinitis pigmentosa 92, MIM# 619614
Review for gene: HKDC1 was set to RED
Added comment: Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant.
Sources: Expert list