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  3. PHYKPL
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TEST Undiagnosed metabolic disorders

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

0 reviews

Details

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

History Filter Activity

20 Aug 2019, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: PHYKPL was added gene: PHYKPL was added to TEST Undiagnosed metabolic disorders. Sources: Expert Review Red,Literature Mode of inheritance for gene: PHYKPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHYKPL were set to 27604308