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  2. Gastrointestinal neuromuscular disease
  3. SEMA3D
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Gastrointestinal neuromuscular disease

Gene: SEMA3D

Red List (low evidence)
SEMA3D (semaphorin 3D)
EnsemblGeneIds (GRCh38): ENSG00000153993
EnsemblGeneIds (GRCh37): ENSG00000153993
OMIM: 609907, Gene2Phenotype
SEMA3D is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Reported as a common susceptibility loci. No reported evidence for an association with Mendelian disease. Sema3d null heterozygote and homozygote mouse model had normal intestinal innervation.
Sources: Expert list
Created: 3 Jul 2020, 5:41 a.m.

Mode of inheritance
Unknown

Phenotypes
Hirschsprung disease

Publications

Created: 3 Jul 2020, 5:41 a.m.

Panel version: 0.20

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hirschsprung disease
OMIM
609907
Clinvar variants
Variants in SEMA3D
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: sema3d 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: SEMA3D was added gene: SEMA3D was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: SEMA3D was set to Unknown Publications for gene: SEMA3D were set to 28334784; 25839327 Phenotypes for gene: SEMA3D were set to Hirschsprung disease Review for gene: SEMA3D was set to RED