Thoracic dystrophies
Gene: SCLT1
SCLT1 (sodium channel and clathrin linker 1)
EnsemblGeneIds (GRCh38): ENSG00000151466
EnsemblGeneIds (GRCh37): ENSG00000151466
OMIM: 611399, Gene2Phenotype
SCLT1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000151466
EnsemblGeneIds (GRCh37): ENSG00000151466
OMIM: 611399, Gene2Phenotype
SCLT1 is in 8 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Single case reported to date.Created: 31 May 2017, 8:41 a.m.
Melita Irving (Guy's and St Thomas' NHS Trust)
Phenotypes
OFD
Hannah Mitchison (UCL and GOSH)
Phenotypes
OFD
Details
- Sources
-
- Expert Review Red
- Phenotypes
-
- Orofaciodigital syndrome
- OMIM
- 611399
- Clinvar variants
- Variants in SCLT1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
31 May 2017, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SCLT1 were set to Orofaciodigital syndrome
31 May 2017, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
31 May 2017, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
31 May 2017, Gel status: 0
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SCLT1 were set to 24285566
25 May 2017, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
25 May 2017, Gel status: 0
Added New Source
Hannah Mitchison (UCL and GOSH)SCLT1 was added to Thoracic dystrophiespanel. Sources: Expert Review
25 May 2017, Gel status: 0
Created
Hannah Mitchison (UCL and GOSH)SCLT1 was created by hmitchis