Arthrogryposis
Gene: SLC6A9

SLC6A9 (solute carrier family 6 member 9)
EnsemblGeneIds (GRCh38): ENSG00000196517
EnsemblGeneIds (GRCh37): ENSG00000196517
OMIM: 601019, Gene2Phenotype
SLC6A9 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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: 3 Dec 2021, 9:30 a.m. | Last Modified: 3 Dec 2021, 9:30 a.m.

Panel Version: 0.310

Two of the reported families have had arthrogryposis as a manifesting feature.
Sources: Expert list
Created: 12 Jul 2020, 10:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy with normal serum glycine, MIM#617301; arthrogryposis

Publications

Created: 12 Jul 2020, 10:37 a.m.

Panel version: 0.310

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Glycine encephalopathy with normal serum glycine, MIM#617301
arthrogryposis

OMIM

601019

Clinvar variants

Variants in SLC6A9

Penetrance

None

Publications

Panels with this gene