Likely inborn error of metabolism - targeted testing not possible
Gene: UQCRQComment on list classification: Amber review collated by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: One variant reported in a consanguineous Israeli Bedouin kindred with Mitochondrial complex III deficiency, nuclear type 4 (615159)(PMID: 18439546).Created: 4 Jun 2019, 3 p.m.
single report in literature:
A consanguineous Israeli Bedouin kindred presented with an autosomal-recessive nonlethal phenotype of severe psychomotor retardation and extrapyramidal signs, dystonia, athetosis and ataxia, mild axial hypotonia, and marked global dementia with defects in verbal and expressive communication skills. Metabolic workup was normal except for mildly elevated blood lactate levels. Brain magnetic resonance imaging (MRI) showed increased density in the putamen, with decreased density and size of the caudate and lentiform nuclei.Created: 3 Feb 2016, 5:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were changed from Mitochondrial complex III deficiency, nuclear type 4, 615159; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency to Mitochondrial complex III deficiency, nuclear type 4, 615159
Publications for gene: UQCRQ were set to 27604308
Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to UQCRQ. Source London North GLH was added to UQCRQ.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159; Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency for gene: UQCRQ
gene: UQCRQ was added gene: UQCRQ was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRQ were set to 27604308 Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency