Likely inborn error of metabolism
Gene: PHYKPL

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

27604308

Created: 23 Feb 2017, 5:15 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

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

27604308

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