SCNN1G

sodium channel epithelial 1 gamma subunit
OMIM: 600761, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SCNN1G in Ciliary Dyskinesia Level 2: Respiratory disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071
Red SCNN1G in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071) Liddle syndrome 2 (MIM#618114) Pseudohypoaldosteronism, type I (MIM#264350)
Green SCNN1G in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Liddle syndrome 2, MIM# 618114 Pseudohypoaldosteronism, type I, MIM# 264350
Green SCNN1G 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 2, MIM# 618114 Pseudohypoaldosteronism, type I, MIM# 264350
Red SCNN1G in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Not set	Sources Expert Review Green Expert Review Emory Genetics Laboratory Victorian Clinical Genetics Services
Red SCNN1G in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Pseudohypoaldosteronism
Green SCNN1G in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pseudohypoaldosteronism, type I - MIM#264350
Green SCNN1G in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BeginNGS Phenotypes Pseudohypoaldosteronism, type I, MIM# 264350 Tags treatable endocrine
Green SCNN1G 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 2, MIM# 618114