SCLT1

sodium channel and clathrin linker 1
OMIM: 611399, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red SCLT1 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	Not set	Sources Expert Review Red Expert Review Phenotypes Orofaciodigital syndrome
Green SCLT1 in Fetal anomalies Version 3.164 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 3.77 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 1.171	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 3.6 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 3.19 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 3.5 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 3.22 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 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Oro-facio-digital syndrome type IX