FLNC

PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R133
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, familial hypertrophic, 26, OMIM:617047, Cardiomyopathy, familial restrictive 5, OMIM:617047, Hypertrophic cardiomyopathy 26, MONDO:0014883
R-numbers: R83
Signed-off version 4.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
R-numbers: R135
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R132
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arthrogryposis, MONDO:0008779
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R131
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, familial hypertrophic, 26, OMIM:617047, Cardiomyopathy, familial restrictive 5, OMIM:617047, Hypertrophic cardiomyopathy 26, MONDO:0014883
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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