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  3. UQCC2
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Clefting

Gene: UQCC2

Red List (low 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

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Red List (low evidence)

Biallelic mutations only described in one patient, whose father appartenly had cleft palate (24385928)
Created: 31 May 2017, 11:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Publications

Created: 31 May 2017, 11:25 a.m.

Panel version: 0.287

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
OMIM
614461
Clinvar variants
Variants in UQCC2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Apr 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UQCC2 were changed from MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7 to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UQCC2 was added to Cleftingpanel. Sources: Expert Review Red

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

UQCC2 was created by ellenmcdonagh