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Mitochondrial disorders

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

1 review

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.
Created: 21 May 2019, 4:16 p.m.

Panel version: 1.298

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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

21 May 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: C19orf70 were changed from to Combined oxidative phosphorylation deficiency 37, 618329

21 May 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: C19orf70 were set to

21 May 2019, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: C19orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal

21 May 2019, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

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

21 May 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: c19orf70 has been classified as Green List (High Evidence).

21 May 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: C19orf70 was added gene: C19orf70 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: C19orf70 was set to