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Mendeliome

Gene: SLC38A3

Green List (high evidence)

SLC38A3 (solute carrier family 38 member 3)
EnsemblGeneIds (GRCh38): ENSG00000188338
EnsemblGeneIds (GRCh37): ENSG00000188338
OMIM: 604437, Gene2Phenotype
SLC38A3 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 102, MIM# 619881

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

7 families 6 of whom are consanguineous but unique variants in all of them

Acquired microcephaly noted (8/10 with >-2 SD, 5/10 >-3 SD)

10/10 with axial hopotonia, absent speech, GDD/ID
9/10 with visual impairment
8/10 with seizures
8/10 with peripheral hypertonia
Sources: Literature
Created: 1 Feb 2022, 11:25 p.m. | Last Modified: 1 Feb 2022, 11:27 p.m.
Panel Version: 0.10836

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 102, MIM# 619881
OMIM
604437
Clinvar variants
Variants in SLC38A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881

1 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc38a3 has been classified as Green List (High Evidence).

1 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC38A3 were changed from developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062 to Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related

1 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc38a3 has been classified as Green List (High Evidence).

1 Feb 2022, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: SLC38A3 was added gene: SLC38A3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC38A3 were set to 34605855 Phenotypes for gene: SLC38A3 were set to developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062 Review for gene: SLC38A3 was set to GREEN gene: SLC38A3 was marked as current diagnostic