Mitochondrial disease
Gene: C19orf70EnsemblGeneIds (GRCh38): ENSG00000174917
EnsemblGeneIds (GRCh37): ENSG00000174917
OMIM: 616658, Gene2Phenotype
C19orf70 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families reported. HGNC approved name MICOS13.
Sources: Expert listCreated: 5 Jan 2020, 7:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 37, MIM# 618329
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 37, MIM# 618329
- OMIM
- 616658
- Clinvar variants
- Variants in C19orf70
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c19orf70 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c19orf70 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: C19orf70 was added gene: C19orf70 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf70 were set to 29618761; 27623147; 27485409 Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, MIM# 618329 Review for gene: C19orf70 was set to GREEN