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Mendeliome

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

Ain Roesley (Victorian Clinical Genetics Services)

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.
Created: 2 Aug 2021, 5:54 a.m. | Last Modified: 2 Aug 2021, 5:54 a.m.
Panel Version: 0.8600
1x de novo missense in a proband with short stature, absent distal phalanges of the 5th fingers and toes, and dysplastic middle phalanges of the toes.

However, there is 4 hets in gnomAD v2
Sources: Literature
Created: 2 Aug 2021, 5:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hirschsprung disease

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hand and foot malformations
  • Hirschsprung disease
OMIM
609907
Clinvar variants
Variants in SEMA3D
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

7 Aug 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEMA3D were changed from Hand and foot malformations to Hand and foot malformations; Hirschsprung disease

2 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema3d has been classified as Red List (Low Evidence).

2 Aug 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEMA3D were changed from to Hand and foot malformations

2 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema3d has been classified as Red List (Low Evidence).

2 Aug 2021, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: SEMA3D was added gene: SEMA3D was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SEMA3D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEMA3D were set to 34159400 Penetrance for gene: SEMA3D were set to unknown Review for gene: SEMA3D was set to RED