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Genetic Epilepsy

Gene: HCCS

Amber List (moderate evidence)
HCCS (holocytochrome c synthase)
EnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment on mode of inheritance: XLD
Created: 23 Jan 2020, 11:05 a.m. | Last Modified: 23 Jan 2020, 11:05 a.m.
Panel Version: 0.306
Seizures are a rarely reported feature of this condition.
Created: 23 Jan 2020, 10:58 a.m. | Last Modified: 23 Jan 2020, 10:58 a.m.
Panel Version: 0.303

Mode of inheritance
Other

Phenotypes
Linear skin defects with multiple congenital anomalies 1, 309801

Publications

Created: 23 Jan 2020, 10:58 a.m.
Last Modified: 23 Jan 2020, 10:58 a.m.
Panel version: 0.303

Details

Mode of Inheritance
Other
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Linear skin defects with multiple congenital anomalies 1, 309801
OMIM
300056
Clinvar variants
Variants in HCCS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HCCS were changed from Linear skin defects with multiple congenital anomalies 1, 309801 to Linear skin defects with multiple congenital anomalies 1, 309801

23 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hccs has been classified as Amber List (Moderate Evidence).

23 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, 309801

23 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HCCS were set to

23 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HCCS was changed from Unknown to Other

23 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hccs has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HCCS was added gene: HCCS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HCCS was set to Unknown