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  2. Aminoacidopathy
  3. PHYKPL
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Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Chet individual reported with variants in this gene and a phenotype similar to EDS. This individual was not reported to any metabolic phenotype. No other reports published at this stage to support gene-disease association.

Classified as Limitied by ClinGen Aminoacidopathy GCEP on 17/11/2023
https://search.clinicalgenome.org/CCID:005792
Sources: ClinGen
Created: 9 Jul 2024, 2:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
phosphohydroxylysinuria MONDO:0014008

Publications

Created: 9 Jul 2024, 2:04 a.m.

Panel version: 1.66

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • phosphohydroxylysinuria MONDO:0014008
OMIM
614683
Clinvar variants
Variants in PHYKPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jul 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: PHYKPL was added gene: PHYKPL was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PHYKPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHYKPL were set to 23242558 Phenotypes for gene: PHYKPL were set to phosphohydroxylysinuria MONDO:0014008 Review for gene: PHYKPL was set to RED