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Fetal anomalies

Gene: DNAH9

Green List (high evidence)

DNAH9 (dynein axonemal heavy chain 9)
EnsemblGeneIds (GRCh38): ENSG00000007174
EnsemblGeneIds (GRCh37): ENSG00000007174
OMIM: 603330, Gene2Phenotype
DNAH9 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 29 Apr 2019, 2:52 p.m.
New gene:disorder association added to DDG2P in March 2019: Motile Cilia Defects and Situs Inversus. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Added to Fetal anomalies panel awaiting clinical review.
Created: 22 Apr 2019, 8:06 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Motile Cilia Defects and Situs Inversus
OMIM
603330
Clinvar variants
Variants in DNAH9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DNAH9 was added gene: DNAH9 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH9 were set to 30471717; 30471718 Phenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus