Hyperammonaemia
Gene: SLC7A7
SLC7A7 (solute carrier family 7 member 7)
EnsemblGeneIds (GRCh38): ENSG00000155465
EnsemblGeneIds (GRCh37): ENSG00000155465
OMIM: 603593, Gene2Phenotype
SLC7A7 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000155465
EnsemblGeneIds (GRCh37): ENSG00000155465
OMIM: 603593, Gene2Phenotype
SLC7A7 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 10 unrelated families reported. Condition is characterised by vomiting, diarrhoea, failure to thrive, hepatomegaly, diffuse cirrhosis, interstitial lung disease, low blood urea, hyperammonemia, and leukopaenia.Created: 21 Oct 2021, 7:25 a.m. | Last Modified: 21 Oct 2021, 7:25 a.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lysinuric protein intolerance, MIM# 222700
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Lysinuric protein intolerance 222700
- OMIM
- 603593
- Clinvar variants
- Variants in SLC7A7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Disorders of immune dysregulation
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Additional findings_Paediatric
- Prepair 1000+
- Pulmonary Fibrosis_Interstitial Lung Disease
- Mendeliome
- BabyScreen+ newborn screening
- Hyperammonaemia
- Renal Tubulopathies and related disorders
- Prepair 500+
- Interstitial Lung Disease
- Intellectual disability syndromic and non-syndromic
- Congenital Diarrhoea
History Filter Activity
21 Oct 2021, 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).
21 Oct 2021, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC7A7 were set to
29 Jan 2021, 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 Hyperammonaemia. Sources: Genomics England PanelApp,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