Miscellaneous Metabolic Disorders
Gene: PCK1EnsemblGeneIds (GRCh38): ENSG00000124253
EnsemblGeneIds (GRCh37): ENSG00000124253
OMIM: 614168, Gene2Phenotype
PCK1 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
6 cases from 4 families with biallelic variants and supporting biochemical results and in vitro assays
Sources: NHS GMSCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pck1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pck1 has been classified as Green List (High Evidence).
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