Mitochondrial disorders
Gene: HCCSComment on mode of inheritance: X-linked dominant in G2P and OMIM. Biallelic mutations in females will be picked up too.Created: 2 Mar 2016, 12:29 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for microphthalmia syndromic type 7.Created: 2 Mar 2016, 12:28 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Victorian Clinical Genetics Services was added to HCCS. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for HCCS were set to Microphthalmia, syndromic 7, 309801; Linear skin defects with multiple congenital anomalies 1
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)
This gene has been classified as Green List (High Evidence).
HCCS was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
HCCS was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen