Arthrogryposis
Gene: SLC35A3EnsemblGeneIds (GRCh38): ENSG00000117620
EnsemblGeneIds (GRCh37): ENSG00000117620
OMIM: 605632, Gene2Phenotype
SLC35A3 is in 6 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 12:24 p.m. | Last Modified: 26 Sep 2024, 12:24 p.m.
Panel Version: 7.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Hannah Knight, there are 12 affected individuals from four different families reported with biallelic SLC35A3 variants and arthrogryposis. Hence, this gene can be promoted to green rating in the next GMS review.Created: 28 May 2024, 12:55 p.m. | Last Modified: 28 May 2024, 12:55 p.m.
Panel Version: 6.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Hannah Knight (NIHR BioResource - University of Cambridge)
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
Alice Gardham (Genomics England)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
- OMIM
- 605632
- Clinvar variants
- Variants in SLC35A3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: SLC35A3. Tag Q2_24_NHS_review was removed from gene: SLC35A3.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to SLC35A3. Source Expert Review Green was added to SLC35A3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 to Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures 615553 to Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: SLC35A3 were set to 24031089
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: SLC35A3. Tag Q2_24_NHS_review tag was added to gene: SLC35A3.
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Alice Gardham (Genomics England)SLC35A3 was added to Arthrogryposispanel. Sources: Literature
Created
Alice Gardham (Genomics England)SLC35A3 was created by agardham