Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Differences of Sex Development v0.58 | SEMA3E | Zornitza Stark Marked gene: SEMA3E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences of Sex Development v0.58 | SEMA3E | Zornitza Stark Gene: sema3e has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences of Sex Development v0.58 | SEMA3E | Zornitza Stark Classified gene: SEMA3E as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences of Sex Development v0.58 | SEMA3E | Zornitza Stark Gene: sema3e has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences of Sex Development v0.42 | SEMA3E |
Crystle Lee 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 Added comment: 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 |