Bilateral congenital or childhood onset cataracts
Gene: HCCS
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
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
This gene has been classified as Red List (Low Evidence).
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
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.
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)
HCCS was added to Cataractspanel. Sources: UKGTN