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  3. DNAJB13
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Heterotaxy

Gene: DNAJB13

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two families reported with PCD phenotype, but no mention of heterotaxy.
Created: 6 May 2020, 10:54 a.m. | Last Modified: 6 May 2020, 10:54 a.m.
Panel Version: 0.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 34 617091

Publications

Created: 6 May 2020, 10:54 a.m.
Last Modified: 6 May 2020, 10:54 a.m.
Panel version: 0.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 34, MIM# 617091
OMIM
610263
Clinvar variants
Variants in DNAJB13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb13 has been classified as Red List (Low Evidence).

6 May 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAJB13 were changed from to Ciliary dyskinesia, primary, 34, MIM# 617091

6 May 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAJB13 were set to

6 May 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DNAJB13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

6 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb13 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAJB13 was added gene: DNAJB13 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DNAJB13 was set to Unknown