Retinal disordersGene: HK1
I suspect this is worth keeping
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Comment on list classification: More than 3 families reported, however seems to be a founder effect, therefore evidence for other variants in this gene is not yet established.
Created: 15 Aug 2017, 8:03 a.m.
One missense variant reported so far. In PMID: 25190649 haplotype analysis in the 5 families, 3 of which were from the Acadian population in Louisiana, 1 French Canadian, and 1 Sicilian, demonstrated a shared 450-kb region on chromosome 10, suggesting a founder mutation.
Created: 15 Aug 2017, 8 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa 79 617460
Source NHS GMS was added to HK1.
This gene has been classified as Amber List (Moderate Evidence).
HK1 was created by ellenmcdonagh
HK1 was added to Posterior segment abnormalitiespanel. Sources: Other