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| Polycystic liver disease v0.27 | DNAJB11 | Zornitza Stark edited their review of gene: DNAJB11: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.27 | DNAJB11 | Zornitza Stark Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease (618061) to Polycystic kidney disease 6 with or without polycystic liver disease (618061); Ivermark II syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.26 | DNAJB11 | Zornitza Stark Publications for gene: DNAJB11 were set to 29706351 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.25 | DNAJB11 | Zornitza Stark Mode of inheritance for gene: DNAJB11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.24 | DNAJB11 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.24 | DNAJB11 |
Zornitza Stark edited their review of gene: DNAJB11: Added comment: Single family reported with bi-allelic variant and severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome. Seven families described with phenotypes overlapping ADTKD and ADPKD and mono-allelic variants in this gene.; Changed publications: 29706351, 29777155, 33129895; Changed phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease (618061), Ivermark II syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Polycystic liver disease v0.4 | DNAJB11 | Zornitza Stark Marked gene: DNAJB11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.4 | DNAJB11 | Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.4 | DNAJB11 | Zornitza Stark Classified gene: DNAJB11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.4 | DNAJB11 | Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.3 | DNAJB11 |
Zornitza Stark gene: DNAJB11 was added gene: DNAJB11 was added to Polycystic liver disease. Sources: Expert list Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJB11 were set to 29706351 Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease (618061) Review for gene: DNAJB11 was set to GREEN Added comment: Sources: Expert list |
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