Ocular coloboma
Gene: HCCS
HCCS (holocytochrome c synthase)
EnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 17 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Recognised as causing coloboma on G2PCreated: 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
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- Anophthalmia or microphthalmia
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- Mosaic skin disorders - deep sequencing
- Undiagnosed metabolic disorders
- Ocular coloboma
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Mitochondrial disorders
- Pigmentary skin disorders
- Retinal disorders
- Glaucoma (developmental)
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