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  3. SLC35A3
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Intellectual disability syndromic and non-syndromic

Gene: SLC35A3

Amber List (moderate evidence)
SLC35A3 (solute carrier family 35 member A3)
EnsemblGeneIds (GRCh38): ENSG00000117620
EnsemblGeneIds (GRCh37): ENSG00000117620
OMIM: 605632, Gene2Phenotype
SLC35A3 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Third unrelated family reported in PMID 28777481 with prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear.

Unclear if this is a distinct phenotype (note Holstein cows with variants in this gene have a skeletal phenotype) or part of a spectrum for a CDG.
Created: 29 Oct 2020, 7:32 a.m. | Last Modified: 29 Oct 2020, 7:32 a.m.
Panel Version: 0.3118

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Skeletal dysplasia

Publications

Created: 29 Oct 2020, 7:32 a.m.
Last Modified: 29 Oct 2020, 7:32 a.m.
Panel version: 0.3118

Chirag Patel (Genetic Health Queensland)

I don't know

1 family with 2 sibs, with segregation but no functional studies.

1 family with 8 affected people. The mutations segregated with the disorder in the family. Patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlCNAc compared to controls.
Created: 10 Dec 2019, 10:54 p.m. | Last Modified: 10 Dec 2019, 10:54 p.m.
Panel Version: 0.1243

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Arthrogryposis, mental retardation, and seizures; OMIM #615553

Publications

Created: 10 Dec 2019, 10:54 p.m.
Last Modified: 10 Dec 2019, 10:54 p.m.
Panel version: 0.1243

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Arthrogryposis, mental retardation, and seizures OMIM #615553
  • Skeletal dysplasia
OMIM
605632
Clinvar variants
Variants in SLC35A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC35A3 were changed from ?Arthrogryposis, mental retardation, and seizures; OMIM #615553 to Arthrogryposis, mental retardation, and seizures OMIM #615553; Skeletal dysplasia

29 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC35A3 were set to PMID: 28328131; 24031089

14 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc35a3 has been classified as Amber List (Moderate Evidence).

10 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: slc35a3 has been classified as Amber List (Moderate Evidence).

10 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from SLC35A3. Source Expert list was added to SLC35A3. Mode of inheritance for gene SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35A3 were changed from to ?Arthrogryposis, mental retardation, and seizures; OMIM #615553 Publications for gene SLC35A3 were changed from PMID: 28328131; 24031089 to PMID: 28328131; 24031089

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC35A3 was added gene: SLC35A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC35A3 was set to Unknown