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Mendeliome

Gene: SLC3A2

Red List (low evidence)

SLC3A2 (solute carrier family 3 member 2)
EnsemblGeneIds (GRCh38): ENSG00000168003
EnsemblGeneIds (GRCh37): ENSG00000168003
OMIM: 158070, Gene2Phenotype
SLC3A2 is in 1 panel

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Limited evidence for variant pathogenicity presented in PMID 31701662, chiefly comprising in-silico assessments and population frequency data.
Created: 25 Nov 2020, 4:42 a.m. | Last Modified: 25 Nov 2020, 4:42 a.m.
Panel Version: 0.5441

Phenotypes
Autism

Publications

Naomi Baker (Victorian Clinical Genetics Services)

Red List (low evidence)

Weak evidence of mendelian gene-disease association reported in the literature.

Three monoallelic missense variants reported in patients with Autism spectrum disorder (ASD) from one publication (PMID: 31701662).
Created: 25 Nov 2020, 2:53 a.m. | Last Modified: 25 Nov 2020, 4:17 a.m.
Panel Version: 0.5441

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Autism
OMIM
158070
Clinvar variants
Variants in SLC3A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC3A2 were changed from to Autism

25 Nov 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC3A2 were set to

25 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc3a2 has been classified as Red List (Low Evidence).

25 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc3a2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC3A2 was added gene: SLC3A2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC3A2 was set to Unknown