Arthrogryposis
Gene: SLC35A3
Linked to phenotype on OMIM
PMID: 28777481 first reported compound het variants in 8 patients in an Ashkenazi Jewish family (p.Gln172Ter; p.Ser296Gly)
PMID: 24031089 reported a patient with a homozygous p.Arg25Leu variant
PMID: 28328131 reported two siblings with compound het variants (p.Arg25Cys and p.Leu300GlnfsTer6)
PMID: 33416188 reported a boy with a homozygous splice variant (c.109-1G>T)Created: 29 Apr 2024, 2:19 p.m. | Last Modified: 29 Apr 2024, 2:19 p.m.
Panel Version: 5.31
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, impaired intellectual development, and seizures, 615553 (3), Autosomal recessive
Publications
Only reported in one family. Not recognised on G2PCreated: 22 Dec 2016, 11:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, mental retardation, and seizures 615553
Publications
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Red List (Low Evidence).
SLC35A3 was added to Arthrogryposispanel. Sources: Literature
SLC35A3 was created by agardham