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Fetal anomalies

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 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.
Created: 18 Apr 2019, 11:28 a.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
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
OMIM
600354
Clinvar variants
Variants in SMN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SMN1 were set to

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SMN1 was added gene: SMN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMN1 were set to Spinal muscular atrophy 253550; Spinal muscular atrophy 271150; Spinal muscular atrophy 253400; Spinal muscular atrophy 253300