Differences of Sex Development
Gene: SEMA3E
SEMA3E (semaphorin 3E)
EnsemblGeneIds (GRCh38): ENSG00000170381
EnsemblGeneIds (GRCh37): ENSG00000170381
OMIM: 608166, Gene2Phenotype
SEMA3E is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000170381
EnsemblGeneIds (GRCh37): ENSG00000170381
OMIM: 608166, Gene2Phenotype
SEMA3E is in 6 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
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 ReviewCreated: 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