Fetal anomalies
Gene: SLC5A7

SLC5A7 (solute carrier family 5 member 7)
EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 8 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 at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 5:31 p.m. | Last Modified: 1 Feb 2021, 5:31 p.m.

Panel Version: 1.596

Created: 1 Feb 2021, 5:31 p.m.
Last Modified: 1 Feb 2021, 5:31 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Arthrogryposis

Copied from Arthrogryposis panel: Mutations identified in seven patients -two with arthrogryposis. Green after internal discussion

Additional comment: Two published families had prenatal presentation with arthrogryposis/fetal akinesia and severe phenotype. PMID: 27569547; 31299140
Created: 28 Jan 2021, 3:07 p.m. | Last Modified: 28 Jan 2021, 3:07 p.m.

Panel Version: 1.189

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 20, presynaptic

Publications

PMID: 27569547
31299140

Created: 28 Jan 2021, 3:07 p.m.
Last Modified: 28 Jan 2021, 3:07 p.m.
Panel version: 1.189

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Congenital Myasthenic Syndrome with Episodic Apnea
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

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

Phenotypes

Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
Congenital myasthenic syndrome 20, MONDO:0014939

OMIM

608761

Clinvar variants

Variants in SLC5A7

Penetrance

None

Publications

Panels with this gene