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  3. HYKK
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Aminoacidopathy

Gene: HYKK

Red List (low evidence)
HYKK (hydroxylysine kinase)
EnsemblGeneIds (GRCh38): ENSG00000188266
EnsemblGeneIds (GRCh37): ENSG00000188266
OMIM: 614681, Gene2Phenotype
HYKK is in 2 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

No known gene-disease association as classified by ClinGen Aminoacidopathy GCEP on 14/07/2023 - https://search.clinicalgenome.org/CCID:005104

HYKK has been reported as a disorders of lysine, hydroxylysine, and tryptophan metabolism by ICIMD however there are no reported pathogenic variants in this gene to support the gene-disease association.
Sources: ClinGen
Created: 8 Jun 2024, 8:59 a.m.

Mode of inheritance
Unknown

Phenotypes
inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351

Publications

Created: 8 Jun 2024, 8:59 a.m.

Panel version: 1.59

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351
OMIM
614681
Clinvar variants
Variants in HYKK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Jun 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: HYKK was added gene: HYKK was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HYKK was set to Unknown Publications for gene: HYKK were set to 23242558 Phenotypes for gene: HYKK were set to inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351 Review for gene: HYKK was set to RED