Arthrogryposis
Gene: SLC5A7

SLC5A7 (solute carrier family 5 member 7)
EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 7 unrelated families reported, can present as arthrogryposis.

Note mono-allelic variants associated with CMT, but later onset.
Created: 13 May 2021, 10:39 a.m. | Last Modified: 13 May 2021, 10:39 a.m.

Panel Version: 0.265

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143

Publications

Created: 13 May 2021, 10:39 a.m.
Last Modified: 13 May 2021, 10:39 a.m.
Panel version: 0.265

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143

OMIM

608761

Clinvar variants

Variants in SLC5A7

Penetrance

None

Publications

Panels with this gene