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Prepair 1000+

Gene: SLC7A7

Green List (high evidence)

SLC7A7 (solute carrier family 7 member 7)
EnsemblGeneIds (GRCh38): ENSG00000155465
EnsemblGeneIds (GRCh37): ENSG00000155465
OMIM: 603593, Gene2Phenotype
SLC7A7 is in 14 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Childhood onset, multi-system disorder.

High variably phenotype (PMID: 17764084)

Condition is characterised by vomiting, diarrhoea, failure to thrive, hepatomegaly, diffuse cirrhosis, interstitial lung disease, low blood urea, hyperammonemia, and leukopaenia.
Created: 3 Apr 2025, 4:38 a.m. | Last Modified: 3 Apr 2025, 4:38 a.m.
Panel Version: 1.1822

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lysinuric protein intolerance, MIM#222700

Publications

History Filter Activity

24 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: slc7a7 has been classified as Green List (High Evidence).

24 Apr 2025, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: SLC7A7 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Lysinuric protein intolerance, 222700 (3) for gene: SLC7A7

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC7A7 was added gene: SLC7A7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700 (3)