SLC7A7

solute carrier family 7 member 7
OMIM: 603593, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SLC7A7 in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 1.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lysinuric protein intolerance, MIM# 222700
Green SLC7A7 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	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
Green SLC7A7 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lysinuric protein intolerance, MIM# 222700
Green SLC7A7 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.57	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green
Green SLC7A7 in Disorders of immune dysregulation Level 2: Immunological disorders Version 0.186 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lysinuric protein intolerance, MIM# 222700 Hyper-inflammatory response of macrophages Normal NK cell function Lysinuric protein intolerance Bleeding tendency Alverolar proteinosis
Red SLC7A7 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Lysinuric protein intolerance, MIM# 222700
Green SLC7A7 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lysinuric protein intolerance, 222700 (3)
Green SLC7A7 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Lysinuric protein intolerance
Green SLC7A7 in Hyperammonaemia Level 2: Metabolic disorders Version 0.10 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Lysinuric protein intolerance 222700
Green SLC7A7 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lysinuric protein intolerance, 222700 (3)
Green SLC7A7 in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes lysinuric protein intolerance MONDO:0009109
Green SLC7A7 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Lysinuric protein intolerance, MIM# 222700 Tags treatable metabolic
Green SLC7A7 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green KidGen_MetabolicRenal v38.1.0 Phenotypes Lysinuric protein intolerance, MIM# 222700
Green SLC7A7 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lysinuric protein intolerance, 222700 (3)