Structural eye disease
Gene: HCCS
DB Wimplinger et al. 2006. reported three unrelated families, many more published sinceCreated: 19 Jun 2019, 3:32 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; Microphthalmia, syndromic 7, 309801
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Wimplinger et al. 2006. reported three unrelated families, many more published sinceCreated: 17 Apr 2019, 3:30 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; Microphthalmia, syndromic 7, 309801
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to HCCS. Added phenotypes Microphthalmia, syndromic 7, 309801; Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS Publications for gene HCCS were changed from 17033964, 24859618 to 24859618; 17033964
gene: HCCS was added gene: HCCS was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HCCS were set to 17033964, 24859618 Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1, 309801; Microphthalmia, syndromic 7, 309801