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NEB

nebulin
OMIM: 161650, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green NEB in Distal myopathies Level 2: Neurology Version 7.6 Latest signed off version: v7.5 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Nemaline myopathy 2, OMIM:256030 distal myopathy, MONDO:0018949
Green NEB in Arthrogryposis Level 2: Neurology Version 10.17 Latest signed off version: v10.16 (12 Aug 2026)	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 2: Neurology Version 7.78 Latest signed off version: v7.77 (12 Aug 2026) 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 2: Neurology Version 6.18 Latest signed off version: v6.17 (12 Aug 2026) 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 Level 2: Fetal (including NIPD) Version 8.1 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY
Green NEB in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) 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 2: Musculoskeletal Version 7.9 Latest signed off version: v7.8 (12 Aug 2026) 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 Level 2: Developmental disorders Version 11.1 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Gene2Phenotype Phenotypes Nemaline myopathy 2, autosomal recessive, 256030
Red NEB in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 8.5 Latest signed off version: v8.4 (12 Aug 2026) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Nemaline myopathy 2, autosomal recessive, OMIM:256030