Primary ciliary disorders

Gene: NME8

Green List (high evidence)

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

I don't know

Only one case of PCD reported to date; one nonsense mutation and one SNP affecting splicing. Further evidence needed re pathogenicity

Created: 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

• 17360648

Comment on list classification: Reviewed in group, agree with reviewer, common intronic variant reported but no other cases

Created: 10 May 2016, 8:33 a.m.

Red List (low evidence)

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

• PMID:17360648