Sudden cardiac death - previous panel
Gene: FHL1EnsemblGeneIds (GRCh38): ENSG00000022267
EnsemblGeneIds (GRCh37): ENSG00000022267
OMIM: 300163, Gene2Phenotype
FHL1 is in 11 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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.
James Eden (Manchester)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- ?Uruguay faciocardiomusculoskeletal syndrome (300280)
- Myopathy, X-linked, with postural muscle atrophy (300696)
- Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718)
- Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717)
- Scapuloperoneal myopathy, X-linked dominant (300695)
- Emery-Dreifuss muscular dystrophy 6, X-linked (300696)
- OMIM
- 300163
- Clinvar variants
- Variants in FHL1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- DDG2P
- Distal myopathies
- Arthrogryposis
- Congenital muscular dystrophy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FHL1 was added gene: FHL1 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH 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 27532257; 28369730 Phenotypes for gene: FHL1 were set to ?Uruguay faciocardiomusculoskeletal syndrome (300280); Myopathy, X-linked, with postural muscle atrophy (300696); Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718); Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717); Scapuloperoneal myopathy, X-linked dominant (300695); Emery-Dreifuss muscular dystrophy 6, X-linked (300696)