Retinal disorders
Gene: HCCSEnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 17 panels
2 reviews
Catherine Snow (Genomics England)
HCCS rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.Created: 7 Oct 2019, 4:13 p.m. | Last Modified: 7 Oct 2019, 4:13 p.m.
Panel Version: 1.178
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
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
retinopathy as part of a complex syndromeCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
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
- NHS GMS
- Phenotypes
-
- Eye Disorders
- Linear skin defects with multiple congenital anomalies 1, 309801
- OMIM
- 300056
- Clinvar variants
- Variants in HCCS
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorders
- Retinal disorders
- DDG2P
- Ocular coloboma
- Pigmentary skin disorders
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Early onset or syndromic epilepsy
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Anophthalmia or microphthalmia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: HCCS were changed from Eye Disorders to Eye Disorders; Linear skin defects with multiple congenital anomalies 1, 309801
Set mode of inheritance
Catherine Snow (Genomics England)Mode of inheritance for gene: HCCS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: hccs has been classified as Green List (High Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to HCCS.
Added New Source
Ellen McDonagh (Genomics England Curator)HCCS was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)HCCS was created by ellenmcdonagh