FHL1

four and a half LIM domains 1
OMIM: 300163, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green FHL1 in Distal myopathies Level 2: Neurology Version 6.16 Latest signed off version: v6.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
Green FHL1 in Hypertrophic cardiomyopathy Level 2: Cardiology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list UKGTN Phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718) Myopathy, X-linked, with postural muscle atrophy (300696) ?Uruguay faciocardiomusculoskeletal syndrome (300280) Scapuloperoneal myopathy, X-linked dominant (300695) Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717) Emery-Dreifuss muscular dystrophy 6, X-linked (300696)
Red FHL1 in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.97	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources South West GLH Oxford Medical Genetics Laboratory
Green FHL1 in Congenital muscular dystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Expert Review Phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, OMIM:300717
Red FHL1 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Expert list
Red FHL1 in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Red Expert Review Phenotypes 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
Green FHL1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Phenotypes Emery-Dreifuss muscular dystrophy
Red FHL1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED
Green FHL1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696
Red FHL1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Scapuloperoneal myopathy, X-linked dominant, 300695 Myopathy, X-linked, with postural muscle atrophy, 300696 Myopathy, reducing body, X-linked, severe early-onset, 300717 Myopathy, reducing body, X-linked, childhood-onset, 300718 Emery-Dreifuss muscular dystrophy 6, X-linked, 300696
Green FHL1 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS South West GLH Expert Review Green