Differences of Sex Development

Gene: SEMA3E

Red List (low evidence)

SEMA3E (semaphorin 3E)
EnsemblGeneIds (GRCh38): ENSG00000170381
EnsemblGeneIds (GRCh37): ENSG00000170381
OMIM: 608166, Gene2Phenotype
SEMA3E is in 6 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Only one variant reported in 2 sibling with Kallman syndrome. Mouse model supports involvement of this gene with the phenotype. Variant not present in gnomad in homozygosity.
Sources: Expert Review
Created: 13 Jul 2020, 3:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?CHARGE syndrome (MIM#214800)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?CHARGE syndrome (MIM#214800)
OMIM
608166
Clinvar variants
Variants in SEMA3E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema3e has been classified as Red List (Low Evidence).

13 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema3e has been classified as Red List (Low Evidence).

13 Jul 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: SEMA3E was added gene: SEMA3E was added to Disorders of Sex Differentiation. Sources: Expert Review Mode of inheritance for gene: SEMA3E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEMA3E were set to 25985275 Phenotypes for gene: SEMA3E were set to ?CHARGE syndrome (MIM#214800) Review for gene: SEMA3E was set to RED