SCNN1A

sodium channel epithelial 1 alpha subunit
OMIM: 600228, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber SCNN1A in Ciliary Dyskinesia Level 2: Respiratory disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021) MONDO:0013087
Amber SCNN1A 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 2, MIM# 613021 MONDO:0013087
Green SCNN1A in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Liddle syndrome 3 618126, MIM# AD, MONDO:0029132 Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021 AD, MONDO:0013087 Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917 Tags treatable
Green SCNN1A 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 3 618126 AD Bronchiectasis with or without elevated sweat chloride 2 613021 AD Pseudohypoaldosteronism, type I 264350 AR.
Red SCNN1A 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 SCNN1A 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 SCNN1A in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pseudohypoaldosteronism
Green SCNN1A 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 SCNN1A 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 SCNN1A in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Pseudohypoaldosteronism, type I, MIM# 264350 Tags treatable endocrine
Green SCNN1A 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 Red Expert Review Phenotypes Bronchiectasis with or without elevated sweat chloride 2 613021 AD Pseudohypoaldosteronism, type I 264350 AR. ?Liddle syndrome 3 618126 AD