Hyperammonaemia
Gene: SLC7A7
SLC7A7 (solute carrier family 7 member 7)
EnsemblGeneIds (GRCh38): ENSG00000155465
EnsemblGeneIds (GRCh37): ENSG00000155465
OMIM: 603593, Gene2Phenotype
SLC7A7 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000155465
EnsemblGeneIds (GRCh37): ENSG00000155465
OMIM: 603593, Gene2Phenotype
SLC7A7 is in 9 panels
3 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lysinuric protein intolerance
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 18 Aug 2016, 1:20 p.m.
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Lysinuric protein intolerance 222700
- OMIM
- 603593
- Clinvar variants
- Variants in SLC7A7
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood interstitial lung disease
- Familial pulmonary fibrosis
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Likely inborn error of metabolism
- Intellectual disability
History Filter Activity
22 Nov 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
18 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
18 Aug 2016, Gel status: 4
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SLC7A7 was changed to BIALLELIC, autosomal or pseudoautosomal
18 Aug 2016, Gel status: 4
Upload gene information
Sarah Leigh (Genomics England Curator)SLC7A7 was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
18 Aug 2016, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC7A7 were set to Lysinuric protein intolerance 222700
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SLC7A7 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory