Mitochondrial disorders
Gene: UQCRQComment on list classification: This gene has been demoted to Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 4 Jun 2019, 10:12 a.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 Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 4, 615159; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial Diseases to Mitochondrial complex III deficiency, nuclear type 4, 615159
Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Publications for gene: UQCRQ were set to
Victorian Clinical Genetics Services was added to UQCRQ. Panel: Mitochondrial disorders
Model of inheritance for gene UQCRQ was changed to BIALLELIC, autosomal or pseudoautosomal
UQCRQ was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene UQCRQ was changed to BIALLELIC, autosomal or pseudoautosomal
UQCRQ was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene UQCRQ was changed to BIALLELIC, autosomal or pseudoautosomal
UQCRQ was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene UQCRQ was changed to BIALLELIC, autosomal or pseudoautosomal
UQCRQ was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
UQCRQ was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory