Mitochondrial disease
Gene: FASTKD2

FASTKD2 (FAST kinase domains 2)
EnsemblGeneIds (GRCh38): ENSG00000118246
EnsemblGeneIds (GRCh37): ENSG00000118246
OMIM: 612322, Gene2Phenotype
FASTKD2 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

7 cases from 6 unrelated families reported with mitochondrial disease, with variable neuromuscular phenotypes. Also, supporting null zebrafish model.
Created: 24 Apr 2022, 6:36 a.m. | Last Modified: 24 Apr 2022, 6:36 a.m.

Panel Version: 0.792

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632

Publications

Created: 24 Apr 2022, 6:36 a.m.
Last Modified: 24 Apr 2022, 6:36 a.m.
Panel version: 0.792

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

7 cases from 6 unrelated families reported with mitochondrial disease, with variable neuromuscular phenotypes. Also, supporting null zebrafish model.
Created: 20 Apr 2022, 7:09 a.m. | Last Modified: 20 Apr 2022, 7:09 a.m.

Panel Version: 0.13115

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632

Publications

Created: 20 Apr 2022, 7:09 a.m.
Last Modified: 20 Apr 2022, 7:09 a.m.
Panel version: Imported from Mendeliome panel version 0.13115

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Combined oxidative phosphorylation deficiency 44, MIM# 618855
FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632

OMIM

612322

Clinvar variants

Variants in FASTKD2

Penetrance

None

Publications

Panels with this gene