Respiratory ciliopathies including non-CF bronchiectasis
Gene: NME8
No further cases reported since 2015. Discussed with NHS GMS respiratory specialist group including Hannah Mitchison 18/01/19, decision made to downgrade to red.Created: 20 Jan 2019, 5:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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: NME8; 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.
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: Is a gene associated with primary ciliary dyskinesia, primary, 6, however seems to have only one pathogenic report of a common intronic variant. Should remain red.Created: 10 May 2016, 8:33 a.m.
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
Gene: nme8 has been classified as Red List (Low Evidence).
Mode of inheritance for gene NME8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 6, 610852; Bronchiectasis for gene: NME8
Source Expert Review Green was added to NME8. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: NME8 was added gene: NME8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: NME8 was set to