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Mackenzie's Mission_Reproductive Carrier Screening

Gene: UQCRC2

Red List (low evidence)

UQCRC2 (ubiquinol-cytochrome c reductase core protein 2)
EnsemblGeneIds (GRCh38): ENSG00000140740
EnsemblGeneIds (GRCh37): ENSG00000140740
OMIM: 191329, Gene2Phenotype
UQCRC2 is in 5 panels

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Comment on list classification: Single variant only, borderline amber for dx, red for screening.
Created: 29 Oct 2020, 3:23 a.m. | Last Modified: 29 Oct 2020, 3:23 a.m.
Panel Version: 0.40

Sarah Righetti (University of New South Wales)

I don't know

Two unrelated families with same homozygous variant, R183W

AMBER: insufficient evidence for gene-phenotype association
Created: 29 Oct 2020, 12:31 a.m. | Last Modified: 29 Oct 2020, 12:31 a.m.
Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
OMIM
191329
Clinvar variants
Variants in UQCRC2
Penetrance
None
Panels with this gene

History Filter Activity

29 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: uqcrc2 has been classified as Red List (Low Evidence).

29 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: uqcrc2 has been classified as Red List (Low Evidence).

19 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UQCRC2 was added gene: UQCRC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)