Fetal anomalies
Gene: SMARCE1

SMARCE1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1)
EnsemblGeneIds (GRCh38): ENSG00000073584
EnsemblGeneIds (GRCh37): ENSG00000073584
OMIM: 603111, Gene2Phenotype
SMARCE1 is in 6 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Created: 3 Nov 2021, 4:05 p.m. | Last Modified: 3 Nov 2021, 4:05 p.m.

Panel Version: 1.792

Created: 3 Nov 2021, 4:05 p.m.
Last Modified: 3 Nov 2021, 4:05 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Intellectual disability

Details of review:
The fetal case in Lefebvre et al 2020 (PMID: 32732226) had IUGR, agenesis of corpus callosum, complex cardiopathy, arhinencephaly. The fetal case in Lei et al 2020 (PMID: 32436246), which seems to be the same case also reported in Li et al 2020 (PMID: 32410215), had Unilateral renal agenesis, transposition of the great arteries, ventricular septal defect, pulmonic stenosis. These and other features of Coffin-Siris are detectable prenatally.
Created: 29 Oct 2021, 2:41 p.m. | Last Modified: 29 Oct 2021, 2:41 p.m.

Panel Version: 1.749

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin Siris syndrome 5

Publications

Created: 29 Oct 2021, 2:41 p.m.
Last Modified: 29 Oct 2021, 2:41 p.m.
Panel version: 1.749

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for COFFIN SIRIS
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

Phenotypes

Coffin-Siris syndrome 5, OMIM:616938

OMIM

603111

Clinvar variants

Variants in SMARCE1

Penetrance

None

Publications

Panels with this gene