1. Panels
  2. Leukodystrophy - paediatric
  3. PC
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Leukodystrophy - paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

White matter abnormalities are part of the phenotype.
Created: 16 Sep 2020, 4:02 a.m. | Last Modified: 16 Sep 2020, 4:02 a.m.
Panel Version: 0.194

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate carboxylase deficiency, MIM# 266150

Created: 16 Sep 2020, 4:02 a.m.
Last Modified: 16 Sep 2020, 4:02 a.m.
Panel version: 0.194

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pyruvate carboxylase deficiency, MIM#266150
OMIM
608786
Clinvar variants
Variants in PC
Penetrance
None
Panels with this gene

History Filter Activity

16 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pc has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PC was added gene: PC was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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