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Respiratory ciliopathies including non-CF bronchiectasis v4.50 DNAJB13 Eleanor Williams Tag Q2_25_ promote_green was removed from gene: DNAJB13.
Respiratory ciliopathies including non-CF bronchiectasis v4.50 DNAJB13 Eleanor Williams reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v4.49 DNAJB13 Eleanor Williams Source Expert Review Green was added to DNAJB13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v4.48 DNAJB13 Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified the association of DNAJB13 gene to primary ciliary dyskinesia 34 (MONDO:0014909) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008877.

There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs*3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of DNAJB13 gene to primary ciliary dyskinesia 34 (MONDO:0014909) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008877.

This gene is associated with 'Ciliary dyskinesia, primary, 34' phenotype in OMIM (MIM #617091) - OMIM accessed on 7 July 2025.

There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs*3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.
Respiratory ciliopathies including non-CF bronchiectasis v4.48 DNAJB13 Ida Ertmanska Publications for gene: DNAJB13 were set to 27486783; 35166991
Respiratory ciliopathies including non-CF bronchiectasis v4.44 DNAJB13 Steven Cowman reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: None; Publications: 40637281; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v4.42 DNAJB13 Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified the association of DNAJB13 gene to primary ciliary dyskinesia 34 (MONDO:0014909) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008877.

There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs*3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of DNAJB13 gene to primary ciliary dyskinesia 34 (MONDO:0014909) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008877.

There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs*3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.
Respiratory ciliopathies including non-CF bronchiectasis v4.42 DNAJB13 Achchuthan Shanmugasundram changed review comment from: DNAJB13 has the gene-disease validity rating of 'Moderate' in ClinGen.

There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs*3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of DNAJB13 gene to primary ciliary dyskinesia 34 (MONDO:0014909) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008877.

There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs*3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.
Respiratory ciliopathies including non-CF bronchiectasis v4.19 DNAJB13 Achchuthan Shanmugasundram Classified gene: DNAJB13 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v4.19 DNAJB13 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases from two different publications) for the promotion of this gene to green rating in the next GMS update.
Respiratory ciliopathies including non-CF bronchiectasis v4.19 DNAJB13 Achchuthan Shanmugasundram Gene: dnajb13 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v4.18 DNAJB13 Achchuthan Shanmugasundram Tag watchlist was removed from gene: DNAJB13.
Tag Q2_25_ promote_green tag was added to gene: DNAJB13.
Respiratory ciliopathies including non-CF bronchiectasis v4.18 DNAJB13 Achchuthan Shanmugasundram Publications for gene: DNAJB13 were set to 27486783
Respiratory ciliopathies including non-CF bronchiectasis v4.17 DNAJB13 Achchuthan Shanmugasundram reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: None; Publications: 35166991; Phenotypes: Ciliary dyskinesia, primary, 34, OMIM:617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong Tag for-review was removed from gene: DNAJB13.
Tag watchlist tag was added to gene: DNAJB13.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong changed review comment from: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."; to: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong commented on gene: DNAJB13: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong commented on gene: DNAJB13: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.54 DNAJB13 Ivone Leong Source Expert Review Amber was added to DNAJB13.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.39 DNAJB13 Ivone Leong reviewed gene: DNAJB13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Respiratory ciliopathies including non-CF bronchiectasis v1.39 DNAJB13 Ivone Leong Tag for-review tag was added to gene: DNAJB13.
Respiratory ciliopathies including non-CF bronchiectasis v1.39 DNAJB13 Ivone Leong Publications for gene: DNAJB13 were set to
Respiratory ciliopathies including non-CF bronchiectasis v1.38 DNAJB13 Ivone Leong Phenotypes for gene: DNAJB13 were changed from Ciliary dyskinesia, primary, 34, 617091 to Ciliary dyskinesia, primary, 34, OMIM:617091, MONDO:0014909
Respiratory ciliopathies including non-CF bronchiectasis v1.7 DNAJB13 Zornitza Stark reviewed gene: DNAJB13: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486783; Phenotypes: Ciliary dyskinesia, primary, 34, MIM# 617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.146 DNAJB13 Louise Daugherty Mode of inheritance for gene: DNAJB13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.145 DNAJB13 Louise Daugherty Phenotypes for gene: DNAJB13 were changed from to Ciliary dyskinesia, primary, 34, 617091
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAJB13 Louise Daugherty Source Expert Review Green was added to DNAJB13.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAJB13 Louise Daugherty reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAJB13 Louise Daugherty gene: DNAJB13 was added
gene: DNAJB13 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAJB13 was set to