Mitochondrial disorders
Gene: UQCC2Comment 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.
Comment on list classification: Promoted from Red to Amber due to two reports.Created: 29 Mar 2019, 2:08 p.m.
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
aka C11orf83;
single mutation report in literature
Created: 5 Feb 2016, 12:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
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
Gene: uqcc2 has been classified as Green List (High Evidence).
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)
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
Publications for gene: UQCC2 were set to
Mode of inheritance for gene: UQCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Victorian Clinical Genetics Services was added to UQCC2. Panel: Mitochondrial disorders
UQCC2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list
UQCC2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list