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  3. DNAJB13
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Ciliary Dyskinesia

Gene: DNAJB13

Green List (high evidence)
DNAJB13 (DnaJ heat shock protein family (Hsp40) member B13)
EnsemblGeneIds (GRCh38): ENSG00000187726
EnsemblGeneIds (GRCh37): ENSG00000187726
OMIM: 610263, Gene2Phenotype
DNAJB13 is in 4 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

1x proband with primary ciliary dyskinesia from VCGS cohort homozygous for an NMD-predicted variant
Created: 25 Apr 2021, 11:47 p.m. | Last Modified: 25 Apr 2021, 11:47 p.m.
Panel Version: 1.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 34 617091

Created: 25 Apr 2021, 11:47 p.m.
Last Modified: 25 Apr 2021, 11:47 p.m.
Panel version: 1.4

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 27486783 - 2 unrelated families (missense, splice). One family hadsinopulmonary syndrome and TEM of nasal cells shows a reduction in cilia. Of remaining cilia, there was a reduction in motility. Functional studies of missense shows increased protein instability and degradation -> protein is absent from patient cilia.

Summary: 2 unrelated families. Functional studies prove LOF but no animal models to make it green in this list
Sources: Literature
Created: 6 May 2020, 4:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 34 617091

Publications

Created: 6 May 2020, 4:25 a.m.

Panel version: 0.45

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 34 617091
OMIM
610263
Clinvar variants
Variants in DNAJB13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb13 has been classified as Green List (High Evidence).

6 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb13 has been classified as Amber List (Moderate Evidence).

6 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb13 has been classified as Amber List (Moderate Evidence).

6 May 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: DNAJB13 was added gene: DNAJB13 was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB13 were set to PMID:27486783 Phenotypes for gene: DNAJB13 were set to Ciliary dyskinesia, primary, 34 617091 Review for gene: DNAJB13 was set to AMBER