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Inborn errors of metabolism

Gene: PET117

Amber List (moderate evidence)

PET117 (PET117 homolog)
EnsemblGeneIds (GRCh38): ENSG00000232838
EnsemblGeneIds (GRCh37): ENSG00000232838
OMIM: 614771, Gene2Phenotype
PET117 is in 4 panels

1 review

Catherine Snow (Genomics England)

Two sisters reported in PMID: 28386624
Created: 18 Nov 2019, 3:57 p.m. | Last Modified: 18 Nov 2019, 3:57 p.m.
Panel Version: 1.406

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • lesions in the medulla oblongata
OMIM
614771
Clinvar variants
Variants in PET117
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: PET117 was added gene: PET117 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PET117 were set to 28386624 Phenotypes for gene: PET117 were set to lesions in the medulla oblongata