GMS Respiratory specialist test group Laterality disorders and isomerism
Gene: DNAH11EnsemblGeneIds (GRCh38): ENSG00000105877
EnsemblGeneIds (GRCh37): ENSG00000105877
OMIM: 603339, Gene2Phenotype
DNAH11 is in 11 panels
1 review
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: DNAH11; Suggested intial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 26 Nov 2018, 2:25 p.m.
Details
- Sources
-
- Expert Review Green
- NHS GMS
- OMIM
- 603339
- Clinvar variants
- Variants in DNAH11
- Penetrance
- None
- Panels with this gene
-
- Non-CF bronchiectasis
- Fetal anomalies
- Respiratory ciliopathies including non-CF bronchiectasis
- Laterality disorders and isomerism
- Ductal plate malformation
- Skeletal dysplasia
- Rare multisystem ciliopathy disorders
- Familial pulmonary fibrosis
- Paediatric disorders - additional genes
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to DNAH11. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: DNAH11 was added gene: DNAH11 was added to GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAH11 was set to