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Inborn errors of metabolism

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 7 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Lysinuric protein intolerance (Disorders of amino acid transport)
  • Lysinuric protein intolerance 222700
OMIM
603593
Clinvar variants
Variants in SLC7A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC7A7. Source London North GLH was added to SLC7A7.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC7A7 was added gene: SLC7A7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A7 were set to 27604308 Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance (Disorders of amino acid transport); Lysinuric protein intolerance 222700