Mitochondrial disease
Gene: PDP1EnsemblGeneIds (GRCh38): ENSG00000164951
EnsemblGeneIds (GRCh37): ENSG00000164951
OMIM: 605993, Gene2Phenotype
PDP1 is in 9 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families.Created: 24 Apr 2022, 7:17 a.m. | Last Modified: 24 Apr 2022, 7:17 a.m.
Panel Version: 0.13215
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase phosphatase deficiency - MIM#608782
Publications
Krithika Murali (Victorian Clinical Genetics Services)
Well-established gene disease associationCreated: 21 Apr 2022, 6:08 a.m. | Last Modified: 21 Apr 2022, 6:08 a.m.
Panel Version: 0.13143
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase phosphatase deficiency - MIM#608782
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 605993
- Clinvar variants
- Variants in PDP1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PDP1 was added gene: PDP1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: PDP1 was set to Unknown