Adult onset neurodegenerative disorder
Gene: DNAJB2
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 4:47 p.m. | Last Modified: 10 Oct 2023, 4:47 p.m.
Panel Version: 4.37
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in three unrelated cases (PMID: 22522442, 25274842).Created: 18 Apr 2023, 9:48 a.m. | Last Modified: 18 Apr 2023, 9:48 a.m.
Panel Version: 4.16
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 18 Apr 2023, 9:46 a.m. | Last Modified: 18 Apr 2023, 9:46 a.m.
Panel Version: 4.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Young adult onset, progressive neurological disorder, phenotype resembles ALS.
Sources: Expert listCreated: 27 Sep 2020, 11:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
Tag Q2_23_promote_green was removed from gene: DNAJB2.
Source NHS GMS was added to DNAJB2. Source Expert Review Green was added to DNAJB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: DNAJB2.
Gene: dnajb2 has been classified as Amber List (Moderate Evidence).
Publications for gene: DNAJB2 were set to
Phenotypes for gene: DNAJB2 were changed from Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 to Spinal muscular atrophy, distal, autosomal recessive, 5, OMIM:614881; young adult-onset distal hereditary motor neuropathy, MONDO:0013947
gene: DNAJB2 was added gene: DNAJB2 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJB2 were set to Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 Review for gene: DNAJB2 was set to GREEN