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BabyScreen+ newborn screening

Gene: SLC7A9

Red List (low evidence)
SLC7A9 (solute carrier family 7 member 9)
EnsemblGeneIds (GRCh38): ENSG00000021488
EnsemblGeneIds (GRCh37): ENSG00000021488
OMIM: 604144, Gene2Phenotype
SLC7A9 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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

However, not sure this meets severity criteria.

For review.
Created: 13 Dec 2022, 10:46 p.m. | Last Modified: 13 Dec 2022, 10:46 p.m.
Panel Version: 0.1386

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cystinuria, MIM# 220100

Created: 13 Dec 2022, 10:46 p.m.
Last Modified: 13 Dec 2022, 10:46 p.m.
Panel version: 0.1386

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

Comment when marking as ready: Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: no specific treatment available

Non-genetic confirmatory test: not assessed
Created: 13 Dec 2022, 3:29 a.m. | Last Modified: 13 Dec 2022, 3:29 a.m.
Panel Version: 0.1361
Established gene-disease association.

Childhood onset, cystinuria

Treatment: no specific treatment available

Non-genetic confirmatory test: not assessed
Created: 13 Dec 2022, 3:27 a.m. | Last Modified: 13 Dec 2022, 3:27 a.m.
Panel Version: 0.1359

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cystinuria, MIM# 220100

Created: 13 Dec 2022, 3:27 a.m.
Last Modified: 13 Dec 2022, 3:27 a.m.
Panel version: 0.1359

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
OMIM
604144
Clinvar variants
Variants in SLC7A9
Penetrance
None
Panels with this gene

History Filter Activity

13 Dec 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC7A9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Dec 2022, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: SLC7A9.

13 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: slc7a9 has been classified as Red List (Low Evidence).

13 Dec 2022, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SLC7A9 were changed from Cystinuria to Cystinuria, MIM# 220100

13 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: slc7a9 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: SLC7A9 was added gene: SLC7A9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC7A9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC7A9 were set to Cystinuria