Intellectual disability
Gene: SEMA3E

SEMA3E (semaphorin 3E)
EnsemblGeneIds (GRCh38): ENSG00000170381
EnsemblGeneIds (GRCh37): ENSG00000170381
OMIM: 608166, Gene2Phenotype
SEMA3E is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Not associated with a phenotype in OMIM or Gen2Phen. One variant has been reported in a case of Severe Intellectual Disability with Cognitive Regression (PMID: 35628442). PMID: 35628442 also describes functional studies which show that this variant impairs protein secretion and hampers the binding to both embryonic mouse neuronal cells and tissues, furthermore, SEMA3E was revealed to be expressed during human brain development.
Sources: Literature
Created: 15 Jul 2022, 3:20 p.m.

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

Phenotypes
Severe Intellectual Disability with Cognitive Regression

Publications

35628442

Created: 15 Jul 2022, 3:20 p.m.

Panel version: 3.1628

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

Severe Intellectual Disability with Cognitive Regression

OMIM

608166

Clinvar variants

Variants in SEMA3E

Penetrance

None

Publications

35628442

Panels with this gene

History Filter Activity

15 Jul 2022, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: SEMA3E was added gene: SEMA3E was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEMA3E were set to 35628442 Phenotypes for gene: SEMA3E were set to Severe Intellectual Disability with Cognitive Regression Review for gene: SEMA3E was set to AMBER

Intellectual disability Gene: SEMA3E