| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2060 | PTCH1 | Elena Savva Marked gene: PTCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2060 | PTCH1 | Elena Savva Gene: ptch1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2060 | PTCH1 | Elena Savva Classified gene: PTCH1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2060 | PTCH1 | Elena Savva Gene: ptch1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2059 | PTCH1 |
Belinda Chong gene: PTCH1 was added gene: PTCH1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTCH1 were set to 11941477; 17001668; 29575684; 36171624 Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7, MIM# 610828 Review for gene: PTCH1 was set to RED Added comment: Currently red for this panel. PMID: 11941477 - In a female with holoprosencephaly, seizures, and bilateral cleft lip, a heterozygous c.2467A>G variant was identified in the PTCH gene. However, this variant is classified as benign in ClinVar. PMID: 36171624 - A 10-month-old Chinese female patient with mobility disorders on the right limbs and recurrent seizures. Epidermal nevus syndrome was diagnosed, the patient also has a de novo mutation (c.109G > T) in PTCH1 gene and cerebral infarction. Sources: Literature |
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