| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.416 | SYTL4 | Zornitza Stark Marked gene: SYTL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.416 | SYTL4 | Zornitza Stark Gene: sytl4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.416 | SYTL4 | Zornitza Stark Classified gene: SYTL4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.416 | SYTL4 | Zornitza Stark Gene: sytl4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.415 | SYTL4 |
Zornitza Stark gene: SYTL4 was added gene: SYTL4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SYTL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SYTL4 were set to 42531028 Phenotypes for gene: SYTL4 were set to Neurodevelopmental disorder, MONDO:0700092, SYTL4-related Review for gene: SYTL4 was set to AMBER Added comment: Reports a recurrent hemizygous missense variant, R126H, located within the Rab-binding domain of SYTL4 in four unrelated male individuals, consistent with an X-linked recessive mode of ASD. R126H knock-in male mice exhibit ASD-relevant behavioural abnormalities accompanied by synaptic deficits in the medial prefrontal cortex. Amber rating as all evidence relates to a single variant -- exercise caution in reporting any other variants. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||