Mitochondrial disorders
Gene: PCK2
As reviewed by Hannah Knight, there are three patients from two different families were identified with biallelic PCK2 variants. All three patients have weakness and abnormal gait, an absence of PCK2 protein, and profound reduction in PCK2 activity in fibroblasts, but no obvious metabolic phenotype. In addition, knockout mice presented with abnormal nerve conduction studies and peripheral nerve pathology, corroborating the human phenotype.Created: 11 Dec 2023, 6:44 p.m. | Last Modified: 11 Dec 2023, 6:44 p.m.
Panel Version: 4.123
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEPCK deficiency, mitochondrial, OMIM:261650
Publications
PMID: 36845668 (2023) identified three patients in two families with a common phenotype and likely pathogenic variants in PCK2:
A 3-year-old girl with ataxia and weakness, who was found to be compound heterozygous for p.Ser23Ter and p.Pro170Leu
Two siblings with abnormal gait and weakness who were found to both be homozygous for p.Arg193Ter. Unaffected sibling did not carry the variant
Sources: LiteratureCreated: 4 Dec 2023, 4:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormal gait; peripheral neuropathy
Publications
Gene: pck2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PCK2 were changed from PEPCK deficiency, mitochondrial, OMIM:261650; Abnormal gait; peripheral neuropathy to PEPCK deficiency, mitochondrial, OMIM:261650; Abnormal gait; peripheral neuropathy
Phenotypes for gene: PCK2 were changed from Abnormal gait; peripheral neuropathy to PEPCK deficiency, mitochondrial, OMIM:261650; Abnormal gait; peripheral neuropathy
gene: PCK2 was added gene: PCK2 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: PCK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCK2 were set to 36845668 Phenotypes for gene: PCK2 were set to Abnormal gait; peripheral neuropathy Review for gene: PCK2 was set to AMBER