PanelApp
  1. Genes and Genomic Entities
  2. SCLT1

SCLT1

sodium channel and clathrin linker 1
OMIM: 611399, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SCLT1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.94

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 1.31

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 1.3512

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 1.45

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 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red SCLT1 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.182

    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 0.234

    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 1.465

    		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