Retinal disordersGene: HKDC1
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (limited). PMID: 30085091 also describes a mouse knockout model. In the mouse model, the retinal degeneration phenotypes were mild (like that seen in humans) and did not have retinal phenotypes until 9 months (similar to the late onset in humans). There is currently not enough evidence to support a gene-disease association. This gene is borderline Red/Amber.
Created: 7 Dec 2021, 10:30 a.m. | Last Modified: 7 Dec 2021, 10:30 a.m.
Panel Version: 2.238
Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant.
Created: 4 Dec 2021, 12:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa 92, MIM# 619614
Gene: hkdc1 has been classified as Red List (Low Evidence).
Phenotypes for gene: HKDC1 were changed from Retinitis pigmentosa 92, MIM# 619614 to Retinitis pigmentosa 92, OMIM:619614
gene: HKDC1 was added gene: HKDC1 was added to Retinal disorders. Sources: Literature 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