Interstitial Lung Disease
Gene: SLC7A7EnsemblGeneIds (GRCh38): ENSG00000155465
EnsemblGeneIds (GRCh37): ENSG00000155465
OMIM: 603593, Gene2Phenotype
SLC7A7 is in 14 panels
2 reviews
Suzanna Lindsey-Temple (Liverpool Hospital)
Lysinuric protein intolerance (LPI) is a multi-systemic disease; its clinical presentation can be acute (hyperammonemic coma) or chronic (failure to thrive, hypotonia). The complications of the disease can be renal, hematological, bone, and gastrointestinal, but the major and life‐threatening complications involve the lung with pulmonary alveolar proteinosis (PAP) and pulmonary fibrosis.Created: 6 Nov 2021, 10:53 a.m. | Last Modified: 6 Nov 2021, 10:53 a.m.
Panel Version: 0.183
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Childhood interstitial lung disease and pulmonary arterial proteinosis.
Publications
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, 7:21 a.m. | Last Modified: 21 Oct 2021, 7:21 a.m.
Panel Version: 0.51
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
- Victorian Clinical Genetics Services
- Phenotypes
-
- Lysinuric protein intolerance, MIM# 222700
- Childhood interstitial lung disease and pulmonary arterial proteinosis
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC7A7 were changed from Lysinuric protein intolerance, MIM# 222700 to Lysinuric protein intolerance, MIM# 222700; Childhood interstitial lung disease and pulmonary arterial proteinosis
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC7A7 were set to 10080182; 18716612
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc7a7 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance, MIM# 222700
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC7A7 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC7A7 was added gene: SLC7A7 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC7A7 was set to Unknown