SCLT1

sodium channel and clathrin linker 1
OMIM: 611399, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red SCLT1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.19

review Not set
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Orofaciodigital syndrome
Green SCLT1 in Fetal anomalies


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX
  • Senior-Løken Syndrome
Tags
  • gene-checked
Amber SCLT1 in Structural eye disease


Version 3.74
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM)
  • None
Green SCLT1 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.169

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX
  • Senior-Løken Syndrome
Tags
  • gene-checked
Green SCLT1 in Ophthalmological ciliopathies


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    Phenotypes
    • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36)
    • No OMIM phenotype
    Tags
    • gene-checked
    Green SCLT1 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.15
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36)
    • No OMIM phenotype
    Tags
    • gene-checked
    Amber SCLT1 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.4
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Orofaciodigital syndrome type IX
    • Senior-Loken syndrome
    No list SCLT1 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.21
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Senior-L ken Syndrome
    • No OMIM phenotype
    • Oro-facio-digital syndrome type IX
    Tags
    • curated_removed
    Green SCLT1 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oro-facio-digital syndrome type IX