SCNN1B

sodium channel epithelial 1 beta subunit
OMIM: 600760, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber SCNN1B in Ciliary Dyskinesia Level 2: Respiratory disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Phenotypes Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)
Amber SCNN1B in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Victorian Clinical Genetics Services Phenotypes Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)
Green SCNN1B in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Liddle syndrome 1, MIM# 177200 Pseudohypoaldosteronism, type I, MIM# 264350 Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)
Green SCNN1B in Hypertension and Aldosterone disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.14	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Liddle syndrome 1, MIM# 177200 Pseudohypoaldosteronism, type I, MIM# 264350
Red SCNN1B in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Not set	Sources Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services
Green SCNN1B 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 Pseudohypoaldosteronism, type I, 264350 (3)
Green SCNN1B in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene Phenotypes Pseudohypoaldosteronism, type I MIM# 264350
Green SCNN1B in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pseudohypoaldosteronism, type I - MIM#264350
Green SCNN1B in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pseudohypoaldosteronism, type I, 264350 (3)
Green SCNN1B in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene BeginNGS Phenotypes Pseudohypoaldosteronism, type I MIM# 264350 Tags treatable endocrine
Green SCNN1B 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Pseudohypoaldosteronism, type I, MIM# 264350 Liddle syndrome 1, MIM# 177200