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Mackenzie's Mission_Reproductive Carrier Screening

Gene: PET100

Green List (high evidence)

PET100 (PET100 homolog)
EnsemblGeneIds (GRCh38): ENSG00000229833
EnsemblGeneIds (GRCh37): ENSG00000229833
OMIM: 614770, Gene2Phenotype
PET100 is in 10 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex IV deficiency, 220110 (3)
OMIM
614770
Clinvar variants
Variants in PET100
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PET100 was added gene: PET100 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 (3)