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  2. Arthrogryposis
  3. DNAJB6
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Arthrogryposis

Gene: DNAJB6

Red List (low evidence)
DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6)
EnsemblGeneIds (GRCh38): ENSG00000105993
EnsemblGeneIds (GRCh37): ENSG00000105993
OMIM: 611332, Gene2Phenotype
DNAJB6 is in 4 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: No association with arthrogryposis
Created: 4 Jan 2017, 10:55 a.m.
Created: 4 Jan 2017, 10:55 a.m.

Panel version: 1.129

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Myofibrillar Myopathy, Dominant
OMIM
611332
Clinvar variants
Variants in DNAJB6
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

DNAJB6 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DNAJB6 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DNAJB6 was created by ellenmcdonagh