Mitochondrial disorders
Gene: UQCC2EnsemblGeneIds (GRCh38): ENSG00000137288
EnsemblGeneIds (GRCh37): ENSG00000137288
OMIM: 614461, Gene2Phenotype
UQCC2 is in 7 panels
4 reviews
Sarah Leigh (Genomics England Curator)
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: 2 unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex III deficiency (Version 0.25).Created: 23 May 2019, 3:45 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from Red to Amber due to two reports.Created: 29 Mar 2019, 2:08 p.m.
Zornitza Stark (Australian Genomics)
Two unrelated individuals reported in the literature so far, probably merits Amber.Created: 1 Sep 2018, 5:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 7, MIM#615824
Publications
Variants in this GENE are reported as part of current diagnostic practice
Shamima Rahman (UCL Institute of Child Health)
aka C11orf83;
single mutation report in literature
Created: 5 Feb 2016, 12:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Victorian Clinical Genetics Services
- Expert list
- Expert
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: UQCC2 were changed from Mitochondrial complex III deficiency, nuclear type 7, 615824 to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: UQCC2 were changed from Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 7, MIM#615824 to Mitochondrial complex III deficiency, nuclear type 7, 615824
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: uqcc2 has been classified as Green List (High Evidence).
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to UQCC2. Source Expert Review Green was added to UQCC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: UQCC2 were changed from Isolated complex III deficiency to Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 7, MIM#615824
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: UQCC2 were set to
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: UQCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to UQCC2. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)UQCC2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)UQCC2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list