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| Congenital diaphragmatic hernia v0.32 | PIGN | Zornitza Stark changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.32 | PIGN | Zornitza Stark changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.32 | PIGN |
Zornitza Stark Tag SV/CNV tag was added to gene: PIGN. Tag founder tag was added to gene: PIGN. |
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| Congenital diaphragmatic hernia v0.32 | PIGN | Zornitza Stark changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.7 | PIGN | Zornitza Stark Marked gene: PIGN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.7 | PIGN | Zornitza Stark Gene: pign has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.7 | PIGN | Zornitza Stark Phenotypes for gene: PIGN were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 1 to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.6 | PIGN | Zornitza Stark Classified gene: PIGN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.6 | PIGN | Zornitza Stark Gene: pign has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.5 | PIGN | Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.5 | PIGN |
Andrew Fennell gene: PIGN was added gene: PIGN was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGN were set to PMID: 27038415; 24852103 Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1 Penetrance for gene: PIGN were set to Complete Review for gene: PIGN was set to GREEN Added comment: Sources: Literature |
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