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  2. Gastrointestinal neuromuscular disease
  3. SEMA3C
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Gastrointestinal neuromuscular disease

Gene: SEMA3C

Red List (low evidence)
SEMA3C (semaphorin 3C)
EnsemblGeneIds (GRCh38): ENSG00000075223
EnsemblGeneIds (GRCh37): ENSG00000075223
OMIM: 602645, Gene2Phenotype
SEMA3C is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Common susceptibility loci for Hirschsprung disease. No reported evidence that it is associated with Mendelian disease.
Sources: Expert list
Created: 3 Jul 2020, 5:29 a.m.

Mode of inheritance
Unknown

Phenotypes
Hirschsprung disease

Publications

Created: 3 Jul 2020, 5:29 a.m.

Panel version: 0.19

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hirschsprung disease
OMIM
602645
Clinvar variants
Variants in SEMA3C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sema3c has been classified as Red List (Low Evidence).

3 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SEMA3C was added gene: SEMA3C was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: SEMA3C was set to Unknown Publications for gene: SEMA3C were set to 25839327 Phenotypes for gene: SEMA3C were set to Hirschsprung disease Review for gene: SEMA3C was set to RED