Glaucoma (developmental)

Gene: HCCS

Green List (high evidence)

DB Wimplinger et al. 2006. reported three unrelated families, many more published since

Created: 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

• 17033964, 24859618

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Wimplinger et al. 2006. reported three unrelated families, many more published since

Created: 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

• 17033964
• 24859618

Variants in this GENE are reported as part of current diagnostic practice