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| Prepair 500+ v1.762 | PCDH19 | Zornitza Stark changed review comment from: Severe condition meets criteria for screening. Note it needs special filtering.; to: Severe condition meets criteria for screening. Note it needs special filtering to detect male carriers at risk of having affected female children. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.762 | PCDH19 | Zornitza Stark Marked gene: PCDH19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v1.762 | PCDH19 | Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 500+ v0.0 | PCDH19 |
Seb Lunke gene: PCDH19 was added gene: PCDH19 was added to Prepair 500+. Sources: Literature,Expert Review Green Mode of inheritance for gene: PCDH19 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: PCDH19 were set to 18469813; 30287595 Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088) |
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