| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3103 | PATJ | Zornitza Stark Marked gene: PATJ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3103 | PATJ | Zornitza Stark Gene: patj has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3103 | PATJ | Zornitza Stark Classified gene: PATJ as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3103 | PATJ | Zornitza Stark Gene: patj has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3102 | PATJ |
Sarah Milton changed review comment from: PATJ encodes PALS1-associated tight junction protein. PMID: 40931526 describes 1 affected fetus with hydrocephalus and polycystic kidney disease with a homozygous NMD predicted variant. Some supportive zebrafish functional data. Homozygous NMD predicted variants rare in gnomAD v4. Sources: Literature; to: PATJ encodes PALS1-associated tight junction protein. PMID: 40931526 describes 1 affected fetus with hydrocephalus and polycystic kidney disease with a homozygous NMD predicted variant. Some supportive zebrafish functional data. Homozygous NMD predicted variants are rare in gnomAD v4. Sources: Literature |
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| Mendeliome v1.3102 | PATJ |
Sarah Milton gene: PATJ was added gene: PATJ was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PATJ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PATJ were set to PMID: 40931526 Phenotypes for gene: PATJ were set to Ciliopathy, MONDO:0005308, PATJ-related Review for gene: PATJ was set to RED Added comment: PATJ encodes PALS1-associated tight junction protein. PMID: 40931526 describes 1 affected fetus with hydrocephalus and polycystic kidney disease with a homozygous NMD predicted variant. Some supportive zebrafish functional data. Homozygous NMD predicted variants rare in gnomAD v4. Sources: Literature |
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