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  3. DNAJB11
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Polycystic liver disease

Gene: DNAJB11

Green List (high evidence)
DNAJB11 (DnaJ heat shock protein family (Hsp40) member B11)
EnsemblGeneIds (GRCh38): ENSG00000090520
EnsemblGeneIds (GRCh37): ENSG00000090520
OMIM: 611341, Gene2Phenotype
DNAJB11 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.
Created: 6 Dec 2020, 8:59 p.m. | Last Modified: 6 Dec 2020, 8:59 p.m.
Panel Version: 0.24

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Polycystic kidney disease 6 with or without polycystic liver disease (618061); Ivermark II syndrome

Publications

Created: 4 Aug 2020, 12:43 a.m.

Panel version: 0.27

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease (618061)
  • Ivermark II syndrome
OMIM
611341
Clinvar variants
Variants in DNAJB11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAJB11 were set to 29706351

6 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb11 has been classified as Green List (High Evidence).

4 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb11 has been classified as Green List (High Evidence).

4 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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