NEB

nebulin
OMIM: 161650, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green NEB in Distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.17 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Nemaline myopathy 2, 256030
Green NEB in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nemaline myopathy 2, 256030 Nemaline myopathy 2, autosomal recessive, 256030 Nemaline Myopathy, Recessive
Green NEB in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Expert Radboud University Medical Center, Nijmegen Expert list Phenotypes nemaline myopathy Nemaline Myopathy, Recessive Nemaline myopathy 2, autosomal recessive, 256030
Green NEB in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.37 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Nemaline myopathy 2, autosomal recessive, OMIM:256030 Tags watchlist_moi
Red NEB in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.32 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Nemaline myopathy 2, autosomal recessive, 256030 congenital myopathy
Green NEB in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY
Green NEB in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY 256030
Amber NEB in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.108 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis multiplex congenita 6, OMIM:619334
Red NEB in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Gene2Phenotype Phenotypes Nemaline myopathy 2, autosomal recessive, 256030
Green NEB in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Nemaline myopathy 2, autosomal recessive, 256030