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 1.63	2 reviews	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 1.2	3 reviews	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 1.3499	1 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 1.16 Component of the following Super Panels: Kidneyome_SuperPanel	1 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 0.346	1 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 0.110	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pseudohypoaldosteronism
Green SCNN1A in Fetal anomalies Version 1.465	1 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 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pseudohypoaldosteronism, type IB1, autosomal recessive, MIM# 264350
Green SCNN1A 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 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 1.22 Component of the following Super Panels: Kidneyome_SuperPanel	2 reviews	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