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Hyperammonaemia

Gene: PC

Green List (high evidence)
PC (pyruvate carboxylase)
EnsemblGeneIds (GRCh38): ENSG00000173599
EnsemblGeneIds (GRCh37): ENSG00000173599
OMIM: 608786, Gene2Phenotype
PC is in 12 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene disease association
Created: 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

Created: 11 Apr 2022, 6:29 a.m.
Last Modified: 11 Apr 2022, 6:29 a.m.
Panel version: Imported from Mendeliome panel version 0.12848

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pyruvate carboxylase deficiency 266150
OMIM
608786
Clinvar variants
Variants in PC
Penetrance
None
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

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 Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency 266150