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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