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  2. Aminoacidopathy
  3. SLC7A7
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Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Reported in at least 8 probands all having an error in amino acid transport. LoF is the mechanism of disease.

Classified Definitive by Aminoacidopathy GCEP on 08/11/2019 - https://search.clinicalgenome.org/CCID:006201
Sources: ClinGen
Created: 18 Jul 2024, 1:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
lysinuric protein intolerance MONDO:0009109

Publications

Created: 18 Jul 2024, 1:05 a.m.

Panel version: 1.95

History Filter Activity

18 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: SLC7A7 was added gene: SLC7A7 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A7 were set to 10080182; 10080183; 15776247 Phenotypes for gene: SLC7A7 were set to lysinuric protein intolerance MONDO:0009109 Review for gene: SLC7A7 was set to GREEN