Bilateral congenital or childhood onset cataracts
Gene: HCCSEnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 17 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
The main clinical characteristics are uni- or bilateral microphthalmia and linear aplastic skin lesions of the face and neck. Additional features such as sclerocornea, corneal opacities, congenital heart defects, microcephaly, intellectual disability and agenesis of the corpus callosum have been observed less frequently. In utero lethality in males. Majority of patients have segmental monosomy of Xp22.2.Created: 2 Jun 2016, 1:20 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, 309801
Publications
- van Rahden et al (2014) Orphanet J Rare Dis 9:53
- Wimplinger et al (2006) Am J Hum Genet 79:878.
Ellen McDonagh (Genomics England Curator)
Not on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 7 (includes cataract as a phenotype).Created: 29 Apr 2016, 12:05 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
Is a confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 7; Linear skin defects with multiple congenital anomalies 1
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 Red
- UKGTN
- Phenotypes
-
- Is a confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 7
- Linear skin defects with multiple congenital anomalies 1, 309801
- OMIM
- 300056
- Clinvar variants
- Variants in HCCS
- Penetrance
- Complete
- Publications
-
- van Rahden et al (2014) Orphanet J Rare Dis 9:53
- Wimplinger et al (2006) Am J Hum Genet 79:878.
- Panels with this gene
-
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Ocular coloboma
- Intellectual disability
- Pigmentary skin disorders
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Anophthalmia or microphthalmia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for HCCS were set to Is a confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 7; Linear skin defects with multiple congenital anomalies 1, 309801
Set publications
Ellen McDonagh (Genomics England Curator)Publications for HCCS were set to van Rahden et al (2014) Orphanet J Rare Dis 9:53; Wimplinger et al (2006) Am J Hum Genet 79:878.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for HCCS was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source
GEL ()HCCS was added to Cataractspanel. Sources: UKGTN