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BabyScreen+ newborn screening

Gene: SLC3A1

Red List (low evidence)
SLC3A1 (solute carrier family 3 member 1)
EnsemblGeneIds (GRCh38): ENSG00000138079
EnsemblGeneIds (GRCh37): ENSG00000138079
OMIM: 104614, Gene2Phenotype
SLC3A1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Established gene-disease association.

Onset is variable, can be in childhood. However, not sure it meets severity criteria.

Treatment is aimed at preventing the formation of stones by encouraging high fluid intake. Penicillamine also used.

For review.
Created: 14 Dec 2022, 5:09 a.m. | Last Modified: 14 Dec 2022, 5:09 a.m.
Panel Version: 0.1416

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cystinuria, MIM# 220100

Created: 14 Dec 2022, 5:09 a.m.
Last Modified: 14 Dec 2022, 5:09 a.m.
Panel version: 0.1416

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

Established gene-disease association.

Childhood onset, renal condition

Treatment: no specific treatment available

Non-genetic confirmatory test: not assessed
Created: 12 Dec 2022, 6:30 a.m. | Last Modified: 12 Dec 2022, 6:30 a.m.
Panel Version: 0.1336

Phenotypes
Cystinuria, MIM# 220100

Created: 12 Dec 2022, 6:30 a.m.
Last Modified: 12 Dec 2022, 6:30 a.m.
Panel version: 0.1336

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Cystinuria, MIM# 220100
Tags
for review treatable renal
OMIM
104614
Clinvar variants
Variants in SLC3A1
Penetrance
None
Panels with this gene

History Filter Activity

14 Dec 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC3A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

14 Dec 2022, Gel status: 1

Added Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: SLC3A1. Tag treatable tag was added to gene: SLC3A1. Tag renal tag was added to gene: SLC3A1.

12 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: slc3a1 has been classified as Red List (Low Evidence).

12 Dec 2022, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SLC3A1 were changed from Cystinuria to Cystinuria, MIM# 220100

12 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: slc3a1 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC3A1 was added gene: SLC3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC3A1 were set to Cystinuria