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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. HKDC1
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: HKDC1

Red List (low evidence)
HKDC1 (hexokinase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000156510
EnsemblGeneIds (GRCh37): ENSG00000156510
OMIM: 617221, Gene2Phenotype
HKDC1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant.
Sources: Expert list
Created: 14 Nov 2021, 7:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 92, MIM# 619614

Publications

Created: 14 Nov 2021, 7:13 a.m.

Panel version: 0.104

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Retinitis pigmentosa 92, MIM# 619614
OMIM
617221
Clinvar variants
Variants in HKDC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hkdc1 has been classified as Red List (Low Evidence).

14 Nov 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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