Fetal anomalies
Gene: SLC6A9

SLC6A9 (solute carrier family 6 member 9)
EnsemblGeneIds (GRCh38): ENSG00000196517
EnsemblGeneIds (GRCh37): ENSG00000196517
OMIM: 601019, Gene2Phenotype
SLC6A9 is in 4 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, 3:51 p.m. | Last Modified: 3 Nov 2021, 3:51 p.m.

Panel Version: 1.789

Created: 3 Nov 2021, 3:51 p.m.
Last Modified: 3 Nov 2021, 3:51 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.

Details of review:
Dempsey et al 2020 (PMID: 31875334) report a fetus with persistently raised NT, hyperextended legs, unilateral talipes. Flexed arms. Small stomach. Consanguineous family. Other reports of SLC6A9 causing arthrogryposis multiplex congenita (presenting prenatally) include: Kurolap et al 2016, PMID: 27773429 (2 families); Hauf et al 2020, PMID: 32712301 (1 family); Mademont-Soler et al 2021, PMID: 33269555 (1 family)
Created: 29 Oct 2021, 2:18 p.m. | Last Modified: 29 Oct 2021, 2:18 p.m.

Panel Version: 1.749

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy with Arthrogryposis

Publications

Created: 29 Oct 2021, 2:18 p.m.
Last Modified: 29 Oct 2021, 2:18 p.m.
Panel version: 1.749

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Glycine Encephalopathy with Arthrogryposis
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

Phenotypes

Glycine encephalopathy with normal serum glycine, OMIM:617301
Arthrogryposis, MONDO:0008779

OMIM

601019

Clinvar variants

Variants in SLC6A9

Penetrance

None

Publications

Panels with this gene