Inborn errors of metabolismGene: HCCS
Comment 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
Source NHS GMS was added to HCCS. Source London North GLH was added to HCCS.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Linear skin defects with multiple congenital anomalies 1; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Microphthalmia, syndromic 7, 309801 for gene: HCCS Publications for gene HCCS were changed from to 27604308
gene: HCCS was added gene: HCCS was added to Inborn errors of metabolism. 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) Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1; Microphthalmia, syndromic 7, 309801