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| Mendeliome v0.240 | SEMA5A | Zornitza Stark Marked gene: SEMA5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.240 | SEMA5A | Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.240 | SEMA5A | Zornitza Stark Classified gene: SEMA5A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.240 | SEMA5A | Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.239 | SEMA5A |
Zornitza Stark gene: SEMA5A was added gene: SEMA5A was added to Mendeliome_VCGS. Sources: Literature Mode of inheritance for gene: SEMA5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEMA5A were set to 26395558 Phenotypes for gene: SEMA5A were set to Intellectual disability; autism Review for gene: SEMA5A was set to AMBER Added comment: 1 patient with de novo translocation t(5;22)(p15.3;q11.21) and ASD and ID. At the translocation breakpoint on chromosome 5, they observed a 861-kb deletion encompassing the end of the SEMA5A gene. No functional studies. 2 patients with ASD and predicted deleterious heterozygous variants (maternally inherited). No functional studies Sources: Literature |
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