Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: PHYKPL

Red List (low evidence)

PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase)
EnsemblGeneIds (GRCh38): ENSG00000175309
EnsemblGeneIds (GRCh37): ENSG00000175309
OMIM: 614683, Gene2Phenotype
PHYKPL is in 2 panels

1 review

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Associated with non-pathogenic phenotype in OMIM, not in G2P. At least 2 variants reported in one case.
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
[?Phosphohydroxylysinuria] 615011

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism)
  • [?Phosphohydroxylysinuria] 615011
OMIM
614683
Clinvar variants
Variants in PHYKPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PHYKPL. Source London North GLH was added to PHYKPL.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PHYKPL was added gene: PHYKPL was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PHYKPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHYKPL were set to 27604308 Phenotypes for gene: PHYKPL were set to Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism); [?Phosphohydroxylysinuria] 615011