Mitochondrial disease
Gene: UQCRC2
homozygous novel variant (p.Gly222Ala) reported. Functional studies showed impaired fibroblast respiratory chain function, western abnormalities, and altered mitochondrial ultrastructural abnormalities and of the mitochondrial network. Expression of a wild type vector in patient fibroblasts led to some restoration of function, but that part of the work was not stellar.
Overall, I think the functional evidence of pathogenicity is quite strong.Created: 20 Jan 2022, 11:04 p.m. | Last Modified: 20 Jan 2022, 11:04 p.m.
Panel Version: 0.685
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
motor delay; developmental delay; symmetric necrotic lesions in the brain stem suggesting Leigh-like syndrome; strabismus; cerebellar signs; lactic academia
Publications
Two unrelated families with same homozygous variant, R183W.Created: 18 Mar 2020, 3:29 a.m. | Last Modified: 18 Mar 2020, 3:29 a.m.
Panel Version: 0.186
Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160
Publications
Publications for gene: UQCRC2 were set to 28275242; 23281071
Mode of inheritance for gene: UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: uqcrc2 has been classified as Green List (High Evidence).
Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160
Publications for gene: UQCRC2 were set to
Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
gene: UQCRC2 was added gene: UQCRC2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: UQCRC2 was set to Unknown