SCLT1:Ensemblv90

sodium channel and clathrin linker 1
OMIM: 611399, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SCLT1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.96	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome
Red SCLT1 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.33	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome Bardet-Biedl syndrome
Green SCLT1 in Mendeliome Version 1.3802	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome Bardet-Biedl syndrome
Green SCLT1 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.46 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Senior-Loken syndrome Bardet-Biedl syndrome
Green SCLT1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.578	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red SCLT1 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 0.225 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Nonsyndromic retinitis pigmentosa
Green SCLT1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.235 Component of the following Super Panels: Retinal Disorders Superpanel	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet Biedl syndrome Senior-Loken syndrome
Green SCLT1 in Fetal anomalies Version 1.482	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome Bardet-Biedl syndrome
Green SCLT1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert list Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome
Red SCLT1 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome Bardet-Biedl syndrome
Green SCLT1 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert list Expert Review Green Phenotypes Senior-Loken syndrome Bardet-Biedl syndrome
Green SCLT1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green SCLT1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert list Expert list Expert Review Green Expert Review Green Phenotypes Bardet Biedl syndrome Senior-Loken syndrome
Green SCLT1 in Fetal anomalies Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Genomics England PanelApp Expert Review Green Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome Bardet-Biedl syndrome