Mitochondrial disease
Gene: PCEnsemblGeneIds (GRCh38): ENSG00000173599
EnsemblGeneIds (GRCh37): ENSG00000173599
OMIM: 608786, Gene2Phenotype
PC is in 12 panels
2 reviews
Krithika Murali (Victorian Clinical Genetics Services)
Well-established gene disease associationCreated: 11 Apr 2022, 6:29 a.m. | Last Modified: 11 Apr 2022, 6:29 a.m.
Panel Version: 0.12848
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate carboxylase deficiency - MIM#266150
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported. Spectrum of severity ranging from death in infancy to a relatively benign condition. Correlates with variant impact with more severely affected individuals having at least one truncating variant.
Sources: Expert listCreated: 18 Mar 2020, 12:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate carboxylase deficiency, MIM# 266150
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Pyruvate carboxylase deficiency, MIM# 266150
- OMIM
- 608786
- Clinvar variants
- Variants in PC
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pc has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PC was added gene: PC was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, MIM# 266150 Review for gene: PC was set to GREEN