Retinal disorders
Gene: HCCS
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
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
Phenotypes for gene: HCCS were changed from Eye Disorders to Eye Disorders; Linear skin defects with multiple congenital anomalies 1, 309801
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)
Gene: hccs has been classified as Green List (High Evidence).
Source NHS GMS was added to HCCS.
HCCS was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
HCCS was created by ellenmcdonagh