1. Panels
  2. Liver Failure_Paediatric
  3. CYC1
STRs in panel
Prev Next
Regions in panel
Prev Next

Liver Failure_Paediatric

Gene: CYC1

Red List (low evidence)
CYC1 (cytochrome c1)
EnsemblGeneIds (GRCh38): ENSG00000179091
EnsemblGeneIds (GRCh37): ENSG00000179091
OMIM: 123980, Gene2Phenotype
CYC1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two families reported, of these episodes of acute liver failure reported in one proband.
Sources: Expert list
Created: 3 Nov 2020, 5:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453

Publications

Created: 3 Nov 2020, 5:01 a.m.

Panel version: 0.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453
OMIM
123980
Clinvar variants
Variants in CYC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyc1 has been classified as Red List (Low Evidence).

3 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYC1 was added gene: CYC1 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYC1 were set to 23910460 Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453 Review for gene: CYC1 was set to RED