Research panel - Severe Paediatric Disorders
Gene: SMN1

SMN1 (survival of motor neuron 1, telomeric)
EnsemblGeneIds (GRCh38): ENSG00000172062
EnsemblGeneIds (GRCh37): ENSG00000172062
OMIM: 600354, Gene2Phenotype
SMN1 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SMN1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Spinal muscular atrophy-1, 253300 (3) | Spinal muscular atrophy-2, 253550 (3) | Spinal muscular atrophy-3, 253400 (3) | Spinal muscular atrophy-4, 271150 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12

Details

Mode of Inheritance

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

OMIM

600354

Clinvar variants

Variants in SMN1

Penetrance

None

Publications

30847515

Panels with this gene