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Inborn errors of metabolism

Gene: C19orf70

Green List (high evidence)

C19orf70 (chromosome 19 open reading frame 70)
EnsemblGeneIds (GRCh38): ENSG00000174917
EnsemblGeneIds (GRCh37): ENSG00000174917
OMIM: 616658, Gene2Phenotype
C19orf70 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for C19orf70 is MICOS13
Created: 18 Dec 2019, 3:51 p.m. | Last Modified: 18 Dec 2019, 3:51 p.m.
Panel Version: 2.0

Sarah Leigh (Genomics England Curator)

New gene symbol: MICOS13
Created: 21 May 2019, 4:20 p.m.
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 unrelated families (2sibs, 2sibs, 1) and functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Created: 21 May 2019, 4:16 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 37, 618329
Tags
new-gene-name
OMIM
616658
Clinvar variants
Variants in C19orf70
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: C19orf70.

6 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: C19orf70 was added gene: C19orf70 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf70 were set to 27623147; 29618761; 27485409 Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, 618329