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| Renal Macrocystic Disease v0.86 | DNAJB11 | Chirag Patel Mode of inheritance for gene DNAJB11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.86 | DNAJB11 |
Chirag Patel Mode of inheritance for gene DNAJB11 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Publications for gene DNAJB11 were changed from 29706351, 29777155, 32631624, 35664268, 32775842, 33129895, 34177435 to 29706351, 29777155, 32631624, 35664268, 32775842, 33129895, 34177435 |
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| Renal Macrocystic Disease v0.40 | DNAJB11 | Zornitza Stark Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061; Ivermark II syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.39 | DNAJB11 | Zornitza Stark Publications for gene: DNAJB11 were set to 29706351; 29777155 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.38 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.37 | DNAJB11 | Zornitza Stark changed review comment from: Single family reported with 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.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.37 | DNAJB11 |
Zornitza Stark changed review comment from: Seven families described with phenotypes overlapping ADTKD and ADPKD. Sources: Expert list; to: Seven families described with phenotypes overlapping ADTKD and ADPKD and mono-allelic variants in this gene. Sources: Expert list |
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| Renal Macrocystic Disease v0.37 | DNAJB11 | Zornitza Stark edited their review of gene: DNAJB11: Added comment: Single family reported with 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.; Changed publications: 29706351, 29777155, 33129895; Changed phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.4 | DNAJB11 | Zornitza Stark Marked gene: DNAJB11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.4 | DNAJB11 | Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.4 | DNAJB11 | Zornitza Stark Classified gene: DNAJB11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.4 | DNAJB11 | Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.3 | DNAJB11 |
Zornitza Stark gene: DNAJB11 was added gene: DNAJB11 was added to Renal cystic disease_KidGen. 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; 29777155 Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 Review for gene: DNAJB11 was set to GREEN gene: DNAJB11 was marked as current diagnostic Added comment: Seven families described with phenotypes overlapping ADTKD and ADPKD. Sources: Expert list |
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