Rare multisystem ciliopathy disorders
Gene: NME8

NME8 (NME/NM23 family member 8)
EnsemblGeneIds (GRCh38): ENSG00000086288
EnsemblGeneIds (GRCh37): ENSG00000086288
OMIM: 607421, Gene2Phenotype
NME8 is in 9 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Primary ciliary dyskinesia not included on this gene panel
Created: 23 Jan 2017, 4:10 p.m.

Created: 23 Jan 2017, 4:10 p.m.

Panel version: 0.430

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Primary ciliary disorder gene.
Created: 28 Nov 2016, 11 a.m.

Created: 28 Nov 2016, 11 a.m.

Panel version: 0.344

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Ciliary dyskinesia, primary, 6, 610852

OMIM

607421

Clinvar variants

Variants in NME8

Penetrance

Complete

Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

23 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

28 Nov 2016, Gel status: 1