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  2. Renal Tubulointerstitial Disease
  3. DNAJB11
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Renal Tubulointerstitial 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)

At least 7 unrelated families with variants reported in this gene; variable presentation including tubulointerstitial disease (histologically) in addition to polycystic disease (hybrid between PKD and ADTKD).
Sources: Expert list
Created: 20 Nov 2019, 4:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Nov 2019, 4:26 a.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
OMIM
611341
Clinvar variants
Variants in DNAJB11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Nov 2019, 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).

20 Nov 2019, 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).

20 Nov 2019, 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 Renal tubulointerstitial 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