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  2. Mackenzie's Mission_Reproductive Carrier Screening
  3. SLC35A3
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Mackenzie's Mission_Reproductive Carrier Screening

Gene: SLC35A3

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

1 review

Sarah Righetti (University of New South Wales)

Green List (high evidence)

HGMD 11 patients from 3 papers plus functional data. Consistent phenotype.
Created: 29 Oct 2020, 4:17 a.m. | Last Modified: 29 Oct 2020, 4:17 a.m.
Panel Version: 0.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, mental retardation, and seizures

Publications

Created: 29 Oct 2020, 4:17 a.m.
Last Modified: 29 Oct 2020, 4:17 a.m.
Panel version: 0.44

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, mental retardation, and seizures (MIM615553)
OMIM
605632
Clinvar variants
Variants in SLC35A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: slc35a3 has been classified as Green List (High Evidence).

6 Nov 2020, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: SLC35A3 were set to

6 Nov 2020, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SLC35A3 were changed from ?Arthrogryposis, mental retardation, and seizures to Arthrogryposis, mental retardation, and seizures (MIM615553)

19 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC35A3 was added gene: SLC35A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35A3 were set to ?Arthrogryposis, mental retardation, and seizures