Miscellaneous Metabolic Disorders

Gene: PCK1

Green List (high evidence)

PCK1 (phosphoenolpyruvate carboxykinase 1)
EnsemblGeneIds (GRCh38): ENSG00000124253
EnsemblGeneIds (GRCh37): ENSG00000124253
OMIM: 614168, Gene2Phenotype
PCK1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

6 cases from 4 families with biallelic variants and supporting biochemical results and in vitro assays
Sources: NHS GMS
Created: 7 Feb 2021, 11:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680; Disorders of gluconeogenesis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680
  • Disorders of gluconeogenesis
OMIM
614168
Clinvar variants
Variants in PCK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pck1 has been classified as Green List (High Evidence).

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pck1 has been classified as Green List (High Evidence).

7 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PCK1 was added gene: PCK1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: PCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCK1 were set to 24863970; 28216384; 26971250; 27604308 Phenotypes for gene: PCK1 were set to Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680; Disorders of gluconeogenesis Review for gene: PCK1 was set to GREEN