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Spinal muscular atrophy type 1 rare mutation testing

Gene: SMN1

Green List (high evidence)

SMN1 (survival of motor neuron 1, telomeric)
EnsemblGeneIds (GRCh38): ENSG00000172062
EnsemblGeneIds (GRCh37): ENSG00000172062
OMIM: 600354, Gene2Phenotype
SMN1 is in 10 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

SMN1 has been added to the panel for R71 Spinal muscular atrophy type 1 rare mutation testing with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 3:43 p.m. | Last Modified: 30 Jun 2023, 3:43 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SMN1 was added gene: SMN1 was added to Spinal muscular atrophy type 1 rare mutation testing. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal