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Mendeliome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional individual identified by VCGS laboratory, homozygous LoF variant and PCD.
Created: 26 Apr 2021, 4 a.m. | Last Modified: 26 Apr 2021, 4 a.m.
Panel Version: 0.7347
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.
Created: 6 May 2020, 10:58 a.m. | Last Modified: 6 May 2020, 10:58 a.m.
Panel Version: 0.2753

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 34, MIM# 617091

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

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

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: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAJB13 were set to

6 May 2020, Gel status: 2

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: 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).

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