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Arthrogryposis

Gene: SLC35A3

Red List (low evidence)

SLC35A3 (solute carrier family 35 member A3)
EnsemblGeneIds (GRCh38): ENSG00000117620
EnsemblGeneIds (GRCh37): ENSG00000117620
OMIM: 605632, Gene2Phenotype
SLC35A3 is in 5 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Only reported in one family. Not recognised on G2P
Created: 22 Dec 2016, 11:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, mental retardation, and seizures 615553

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Arthrogryposis, mental retardation, and seizures 615553
OMIM
605632
Clinvar variants
Variants in SLC35A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

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.

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

22 Dec 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

SLC35A3 was added to Arthrogryposispanel. Sources: Literature

22 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

SLC35A3 was created by agardham