FLNC

filamin C
OMIM: 102565, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green FLNC in Distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Myopathy, distal, 4, OMIM:614065 Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289
Red FLNC in Progressive cardiac conduction disease Version 2.8 Latest signed off version: v2.7 (1 May 2024) 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Phenotypes Heart conduction disease, MONDO:0000992
Green FLNC in Hypertrophic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 4.9 Latest signed off version: v4.8 (1 May 2024) 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH Wessex and West Midlands GLH Oxford Medical Genetics Laboratory Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883
Green FLNC in Arrhythmogenic right ventricular cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 3.11 Latest signed off version: v3.10 (1 May 2024) 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883
Amber FLNC in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert Review Amber Wessex and West Midlands GLH Oxford Medical Genetics Laboratory Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289
Green FLNC in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.3 Latest signed off version: v6.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883 Myopathy, distal, 4, OMIM:614065 Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289
Amber FLNC in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.38 Latest signed off version: v4.37 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Myopathy, distal, 4, OMIM:614065 Myopathy, myofibrillar, 5, OMIM:609524
Green FLNC in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.33 Latest signed off version: v4.32 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Emory Genetics Laboratory Phenotypes Myopathy, distal, 4, OMIM:614065 Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289
Green FLNC in Dilated and arrhythmogenic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.25 Latest signed off version: v2.23 (1 May 2024) 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289
Green FLNC in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes Arthrogryposis, MONDO:0008779
Green FLNC in Paediatric or syndromic cardiomyopathy Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289
Green FLNC in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883 Myopathy, distal, 4, OMIM:614065 Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289