Rhabdomyolysis and Metabolic Myopathy
Gene: FASTKD2EnsemblGeneIds (GRCh38): ENSG00000118246
EnsemblGeneIds (GRCh37): ENSG00000118246
OMIM: 612322, Gene2Phenotype
FASTKD2 is in 7 panels
2 reviews
Sangavi Sivagnanasundram (Melbourne Health)
- Onset in infancy or early childhood
- Features typically include global developmental delay, hypotonia, and abnormal movements.
5 individuals from 4 unrelated families with features of with hypotonia, increased serum lactate and phenotypes relating to hypertrophic cardiomyopathy
PMID: 31944455
Functional study using HEK293 cells showed the depletion in FASTKD2 protein resulting in defective mitochondrial RNA translation.
Sources: OtherCreated: 9 May 2023, 6:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 44 (MIM#618855)
Publications
Bryony Thompson (Royal Melbourne Hospital)
Two unrelated families with a Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) like syndrome.
Sources: Expert ReviewCreated: 24 Feb 2020, 5:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency MIM#220110
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 44 (MIM#618855)
- OMIM
- 612322
- Clinvar variants
- Variants in FASTKD2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fastkd2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fastkd2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: FASTKD2 was added gene: FASTKD2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASTKD2 were set to 31944455; 18771761 Phenotypes for gene: FASTKD2 were set to Combined oxidative phosphorylation deficiency 44 (MIM#618855) Review for gene: FASTKD2 was set to GREEN