FHL1

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red FHL1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696 Myopathy, X-linked, with postural muscle atrophy, MIM# 300696 Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717 Reducing body myopathy, X-linked 1b, with late childhood or adult onset, MIM# 300718 Scapuloperoneal myopathy, X-linked dominant, MIM# 300695
Green FHL1 in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 0.178 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
Green FHL1 in Mendeliome Version 1.1891	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 Victorian Clinical Genetics Services Phenotypes Reducing body myopathy MONDO:0019948 X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680
Amber FHL1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	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 Amber Expert list Expert Review Green Expert list Phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717
Green FHL1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	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 list Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Reducing body myopathy MONDO:0019948 X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680
Green FHL1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)
Green FHL1 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green South West GLH NHS GMS
Red FHL1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category C gene BabySeq Category A gene Phenotypes Myofibrillar myopathy Emery-Dreifuss muscular dystrophy
Green FHL1 in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)
Red FHL1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene BabySeq Category A gene Expert Review Red Phenotypes Myofibrillar myopathy Emery-Dreifuss muscular dystrophy
Green FHL1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
Green FHL1 in Prepair 500+ Level 2: Screening Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)