| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Periventricular Grey Matter Heterotopia v0.19 | KAT6B | Zornitza Stark Marked gene: KAT6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.19 | KAT6B | Zornitza Stark Gene: kat6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.19 | KAT6B | Zornitza Stark Classified gene: KAT6B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.19 | KAT6B | Zornitza Stark Gene: kat6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.18 | KAT6B |
Konstantinos Varvagiannis gene: KAT6B was added gene: KAT6B was added to Periventricular Grey Matter Heterotopia. Sources: Literature Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6B were set to 32424177; 23236640 Phenotypes for gene: KAT6B were set to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170 Penetrance for gene: KAT6B were set to Complete Review for gene: KAT6B was set to AMBER Added comment: Zhang et al (2020 - PMID: 32424177) provide a review of the KAT6B-related phenotypes based on unpublished as well as previously reported patients. Grey matter heterotopia was observed in three individuals. According to GeneReviews (PMID : 23236640) : Most GPS-associated pathogenic variants cluster in KAT6B exon 18, the last exon, and are predicted to produce truncated proteins associated with a gain-of-function mechanism. SBBYS-causing pathogenic variants also occur most frequently in exon 18, but more distally than the GPS-associated variants. Predicted loss-of-function variants in exons 3, 7, 11, and 14-17 were reported to be associated with the SBBYSS phenotype. Please consider inclusion in the current panel with amber or green rating. Sources: Literature |
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