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| Genetic Epilepsy v0.2754 | ZDHHC15 | Zornitza Stark Phenotypes for gene: ZDHHC15 were changed from Mental retardation X-linked 91, 300577; cerebral palsy; intellectual disability; autism spectrum disorder; epilepsy to Intellectual disability, X-linked 91, 300577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2753 | ZDHHC15 | Zornitza Stark edited their review of gene: ZDHHC15: Changed phenotypes: Intellectual disability, X-linked 91, 300577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1259 | ZDHHC15 | Zornitza Stark Marked gene: ZDHHC15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1259 | ZDHHC15 | Zornitza Stark Gene: zdhhc15 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1259 | ZDHHC15 | Zornitza Stark Classified gene: ZDHHC15 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1259 | ZDHHC15 | Zornitza Stark Gene: zdhhc15 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1250 | ZDHHC15 |
Krithika Murali gene: ZDHHC15 was added gene: ZDHHC15 was added to Genetic Epilepsy. Sources: Expert list,Literature Mode of inheritance for gene: ZDHHC15 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZDHHC15 were set to 34345675; 15915161; 26290131; 32989326 Phenotypes for gene: ZDHHC15 were set to Mental retardation X-linked 91, 300577; cerebral palsy; intellectual disability; autism spectrum disorder; epilepsy Review for gene: ZDHHC15 was set to RED Added comment: 1 reported case of an 18 yo M with hypotonic cerebral palsy, focal-onset epilepsy, cortical visual impairment, intellectual disability, autism spectrum disorder, anxiety, and aggressive behaviors with hemizygous p.H158R variant shown to affect protein function in yeast complementation assay (Lewis et al Neurology Genetics 2021 PMID 34345675). ---- Other background info: Protein function of x4 ZDHHC15 variants assessed by Lewis et al. x2 variants identified through Jin et al Nat Genet 2020 (PMID 32989326) - maternally inherited p.H158R and p.L13P. x1 identified through Gene Matcher p.S330P and x1 through GeneDx maternally inherited p.K115R. Only p.H158R variant shown to affect protein function. In Drosophilia model LoF variants caused flight and co-ordinated movement defects supporting role in motor dysfunction. Conflicting evidence for ID phenotype 1 case with intellectual disability and balanced translocation with breakpoints near the ZDHHC15 gene - functional studies showing absence of ZDHHC15 transcript variants. This patient showed skewed lyonization, with 100% inactivation of the normal X chromosome. PMID: 15915161 1 case with NO intellectual disability and balanced translocation with breakpoints in the ZDHHC15 gene - functional studies showing no gene expression in the patient's peripheral blood (PMID 26290131) Sources: Expert list, Literature |
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