Primary ciliary disorders
Gene: NME8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 6, 610852
Variants in this GENE are reported as part of current diagnostic practice
Only one case of PCD reported to date; one nonsense mutation and one SNP affecting splicing. Further evidence needed re pathogenicityCreated: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia and Reduced Generation of Multiple Motile Cilia Syndrome; situs inversus
Publications
Comment on list classification: Reviewed in group, agree with reviewer, common intronic variant reported but no other casesCreated: 10 May 2016, 8:33 a.m.
None found yet. This is always on the PCD gene list but in fact only one case reported, which has a polymorphism as the 2nd allele (Duriez et al. PNAS2007 Feb 27;104(9):3336-41). In my view not strong evidence as PCD cause, but leave on the list of course.Created: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 6
Publications
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
NME8 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
NME8 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
NME8 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory