SMN1

survival of motor neuron 1, telomeric
OMIM: 600354, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SMN1 in Gene therapy clinical trials Level 3: Clinical trials Level 2: Actionable information Version 0.9	review	Not set	Sources Expert Review Green ClinicalTrials.gov Phenotypes Spinal Muscular Atrophy Type 1
Green SMN1 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes arthrogryposis Spinal muscular atrophy-1, 253300 Spinal muscular atrophy-2, 253550 Spinal muscular atrophy-3, 253400 Spinal muscular atrophy-4, 271150
Red SMN1 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Spinal muscular atrophy-4, 271150
Green SMN1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Spinal muscular atrophy 253550 Spinal muscular atrophy 271150 Spinal muscular atrophy 253400 Spinal muscular atrophy 253300
Green SMN1 in Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 3.7 Latest signed off version: v3.6 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Spinal muscular atrophy 1, OMIM:253300 Spinal muscular atrophy 2, OMIM:253550 Spinal muscular atrophy 3, OMIM:253400 Spinal muscular atrophy 4, OMIM:271150 Tags cnv gene-therapy-trial
Green SMN1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Expert list Phenotypes Spinal muscular atrophy-3, OMIM:253400 Spinal muscular atrophy-4, OMIM:271150 Spinal muscular atrophy-2, OMIM:253550 Spinal muscular atrophy-1, OMIM:253300 Tags gene-therapy-trial
Green SMN1 in Hereditary neuropathy or pain disorder Version 4.8 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Spinal muscular atrophy-3, OMIM:253400 Spinal muscular atrophy-4, OMIM:271150 Spinal muscular atrophy-2, OMIM:253550 Spinal muscular atrophy-1, OMIM:253300
Green SMN1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spinal muscular atrophy-3, 253400 Spinal muscular atrophy-4, 271150 Spinal muscular atrophy-2, 253550 Spinal muscular atrophy-1, 253300
Green SMN1 in Spinal muscular atrophy type 1 rare mutation testing Version 1.1 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS