Ciliary Dyskinesia
Gene: NEK10EnsemblGeneIds (GRCh38): ENSG00000163491
EnsemblGeneIds (GRCh37): ENSG00000163491
NEK10 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Nine individuals from 5 unrelated families, some functional data.
Sources: NHS GMSCreated: 1 Apr 2020, 10:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 44, MIM# 618781
Publications
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, 44, MIM# 618781
- Bronchiectasis
- Clinvar variants
- Variants in NEK10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NEK10 were changed from Primary ciliary dyskinesia; bronchiectasis to Ciliary dyskinesia, primary, 44, MIM# 618781; Bronchiectasis
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nek10 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NEK10 were changed from to Primary ciliary dyskinesia; bronchiectasis
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nek10 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NEK10 was added gene: NEK10 was added to Ciliary Dyskinesia. Sources: NHS GMS Mode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK10 were set to 31959991 Review for gene: NEK10 was set to GREEN gene: NEK10 was marked as current diagnostic