Likely inborn error of metabolism - targeted testing not possible
Gene: UQCC2Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported, with functional supporting evidence.Created: 14 Nov 2019, 4:17 p.m. | Last Modified: 14 Nov 2019, 4:17 p.m.
Panel Version: 1.397
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.
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 Isolated complex III deficiency to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
Mode of inheritance for gene: UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: uqcc2 has been classified as Green List (High Evidence).
Publications for gene: UQCC2 were set to
Gene: uqcc2 has been classified as Green List (High Evidence).
Sarah Leigh: Associated with phenotype in O
gene: UQCC2 was added gene: UQCC2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCC2 was set to Unknown Phenotypes for gene: UQCC2 were set to Isolated complex III deficiency