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 1.23	1 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 1.2	2 reviews	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 1.3512	1 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 0.92	1 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 1.33 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 1.410	1 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 0.110	0 reviews	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	0 reviews	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	1 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 2.14	1 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 1.137 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes lysinuric protein intolerance MONDO:0009109
Green SLC7A7 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 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 1.22 Component of the following Super Panels: Kidneyome_SuperPanel	1 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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lysinuric protein intolerance, MIM#222700