1. Panels
  2. Prepair 1000+
  3. HK1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: HK1

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

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Caution mutliple phenotypes:

AD phenotype Neurodevelopmental disorder with visual defects and brain anomalies MIM#618547 caused by recurrent variants likely causing gain-of-function c.1370C>T, c.1334C>T, c.1240G>A
(PMID: 38617198)

AR HMSNR Founder variant in the Roma, -3818-195G-C, AltT2 EXON in 5'UTR identified in multiple families.
Created: 27 Sep 2024, 10:42 p.m. | Last Modified: 27 Sep 2024, 10:42 p.m.
Panel Version: 1.348
Created: 27 Sep 2024, 10:42 p.m.
Last Modified: 27 Sep 2024, 10:42 p.m.
Panel version: 1.348

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Hemolytic anemia due to hexokinase deficiency is a rare autosomal recessive disease with a clinical phenotype of severe hemolysis.

Neuropathy, hereditary motor and sensory is characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities

There are AD forms for this gene

HGNC approved symbol: HK1
Is the phenotype severe and early onset ,18yo? Y
Created: 25 Sep 2024, 6:49 a.m. | Last Modified: 25 Sep 2024, 6:49 a.m.
Panel Version: 1.322

Phenotypes
Hemolytic anemia due to hexokinase deficiency MIM#235700; Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) MONDO:0009340 and Neuropathy, hereditary motor and sensory, Russe type MIM#605285; Charcot-Marie-Tooth disease type 4G (CMT4G) MONDO:0011534

Publications

Created: 25 Sep 2024, 6:49 a.m.
Last Modified: 25 Sep 2024, 6:49 a.m.
Panel version: 1.322

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemolytic anemia due to hexokinase deficiency MIM#235700
  • Neuropathy, hereditary motor and sensory, Russe type, MIM#605285
OMIM
142600
Clinvar variants
Variants in HK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: hk1 has been classified as Green List (High Evidence).

27 Sep 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: HK1 were changed from Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) to Hemolytic anemia due to hexokinase deficiency MIM#235700; Neuropathy, hereditary motor and sensory, Russe type, MIM#605285

27 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: HK1 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. 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)