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Severe Paediatric 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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MICOS13; Recommended initial gene rating: Green List (high evidence); Phenotypes: Combined oxidative phosphorylation deficiency 37, 618329 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12
Added new-gene-name tag, new approved HGNC gene symbol for C19orf70 is MICOS13 (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 10:41 a.m. | Last Modified: 17 Feb 2020, 10:41 a.m.
Panel Version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
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 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene C19orf70 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to C19orf70.

14 Feb 2020, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to C19orf70. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: C19orf70 was added gene: C19orf70 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: C19orf70 was set to