Molecular autopsy
Gene: FHL1
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 62 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with X-linked myopathy with postural muscle atrophy (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
?Uruguay faciocardiomusculoskeletal syndrome (300280); Emery-Dreifuss muscular dystrophy 6, X-linked (300696); Myopathy, X-linked, with postural muscle atrophy (300696); Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717); Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718); Scapuloperoneal myopathy, X-linked dominant (300695)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to FHL1.
Source North West GLH was added to FHL1. Added phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718); ?Uruguay faciocardiomusculoskeletal syndrome (300280); Scapuloperoneal myopathy, X-linked dominant (300695); Myopathy, X-linked, with postural muscle atrophy (300696); Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717); Emery-Dreifuss muscular dystrophy 6, X-linked (300696) for gene: FHL1 Publications for gene FHL1 were changed from http://www.ncbi.nlm.nih.gov/pubmed/22523091 to 27532257; 28369730
gene: FHL1 was added gene: FHL1 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091