Respiratory ciliopathies including non-CF bronchiectasis
Gene: ZMYND10EnsemblGeneIds (GRCh38): ENSG00000004838
EnsemblGeneIds (GRCh37): ENSG00000004838
OMIM: 607070, Gene2Phenotype
ZMYND10 is in 6 panels
4 reviews
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: ZMYND10; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 22, 615444
Variants in this GENE are reported as part of current diagnostic practice
Caroline Wright (Genomics England Curator)
Comment on list classification: 2 expert reviewers agree and current diagnosticCreated: 10 May 2016, 9:06 a.m.
Hannah Mitchison (UCL and GOSH)
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 22
Publications
- PMID:23891471
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Ciliary dyskinesia, primary, 22, 615444
- OMIM
- 607070
- Clinvar variants
- Variants in ZMYND10
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene ZMYND10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 22, 615444 for gene: ZMYND10
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to ZMYND10. 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: ZMYND10 was added gene: ZMYND10 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: ZMYND10 was set to