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Severe Paediatric Disorders

Gene: UQCC2

Green List (high evidence)

UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000137288
EnsemblGeneIds (GRCh37): ENSG00000137288
OMIM: 614461, Gene2Phenotype
UQCC2 is in 7 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: UQCC2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, 615824 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 7, 615824
OMIM
614461
Clinvar variants
Variants in UQCC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene UQCC2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial complex III deficiency, nuclear type 7, 615824 for gene: UQCC2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial complex III deficiency, nuclear type 7, 615824 for gene: UQCC2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial complex III deficiency, nuclear type 7, 615824 for gene: UQCC2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial complex III deficiency, nuclear type 7, 615824 for gene: UQCC2

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene UQCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex III deficiency, nuclear type 7, 615824 for gene: UQCC2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to UQCC2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to UQCC2. 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: UQCC2 was added gene: UQCC2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: UQCC2 was set to