Mackenzie's Mission_Reproductive Carrier Screening
Gene: HK1

HK1 (hexokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000156515
EnsemblGeneIds (GRCh37): ENSG00000156515
OMIM: 142600, Gene2Phenotype
HK1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

The association with HMSN-R is specifically with a founder Roma variant, which is located in the 5'UTR of this gene, which may not be tractable with all NGS assays.

Or is the gene included due to the association with haemolytic anaemia?
Created: 4 May 2021, 5:26 a.m. | Last Modified: 4 May 2021, 5:26 a.m.

Panel Version: 0.70

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary motor and sensory, Russe type , MIM#605285

Publications

Created: 4 May 2021, 5:26 a.m.
Last Modified: 4 May 2021, 5:26 a.m.
Panel version: 0.70

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)

OMIM

142600

Clinvar variants

Variants in HK1

Penetrance

None

Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HK1 was added gene: HK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HK1 were set to Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)

Mackenzie's Mission_Reproductive Carrier Screening Gene: HK1