Ocular coloboma

Gene: HCCS

Green List (high evidence)

HCCS (holocytochrome c synthase)
EnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 17 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment when marking as ready: Recognised as causing coloboma on G2P
Created: 16 Nov 2016, 1:26 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Linear skin defects with multiple congenital anomalies 1, 309801

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Linear skin defects with multiple congenital anomalies 1, 309801
OMIM
300056
Clinvar variants
Variants in HCCS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

HCCS was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Literature

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

HCCS was created by agardham