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  2. Ciliary Dyskinesia
  3. DNAH17
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Ciliary Dyskinesia

Gene: DNAH17

Green List (high evidence)
DNAH17 (dynein axonemal heavy chain 17)
EnsemblGeneIds (GRCh38): ENSG00000187775
EnsemblGeneIds (GRCh37): ENSG00000187775
OMIM: 610063, Gene2Phenotype
DNAH17 is in 2 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen Motile Ciliopathies GCEP on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669
Sources: Other
Created: 6 May 2024, 12:07 a.m. | Last Modified: 6 May 2024, 12:11 a.m.
Panel Version: 1.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spermatogenic failure 39 (MONDO:0032845)

Publications

  • https://search.clinicalgenome.org/CCID:004669

Created: 6 May 2024, 12:07 a.m.
Last Modified: 6 May 2024, 12:11 a.m.
Panel version: 1.39

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • spermatogenic failure 39 (MONDO:0032845)
OMIM
610063
Clinvar variants
Variants in DNAH17
Penetrance
None
Publications
  • https://search.clinicalgenome.org/CCID:004669
Panels with this gene

History Filter Activity

11 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dnah17 has been classified as Green List (High Evidence).

11 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dnah17 has been classified as Green List (High Evidence).

6 May 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

gene: DNAH17 was added gene: DNAH17 was added to Ciliary Dyskinesia. Sources: Other Mode of inheritance for gene: DNAH17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH17 were set to https://search.clinicalgenome.org/CCID:004669 Phenotypes for gene: DNAH17 were set to spermatogenic failure 39 (MONDO:0032845) Review for gene: DNAH17 was set to GREEN