Ciliary Dyskinesia

Gene: NME8

Red List (low evidence)

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

aka TXNDC3

PMID: 17360648 - reports a chet patient (nonsense,splice) and a het patient with PCD and the same splice variant (c.271-27C>T). However this splice variant is very common in the population (gnomAD) and regarded as a polymorphism but affecting isoform expression. This splice variant is also present in ClinVar as benign/likely benign. Do not regard these findings as usable evidence.

An association study found (PMID: 31966386), but no convincing reports linking this gene to disease
Created: 25 May 2020, 5 a.m. | Last Modified: 25 May 2020, 5 a.m.
Panel Version: 0.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 6 610852

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 6, MIM# 610852
OMIM
607421
Clinvar variants
Variants in NME8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nme8 has been classified as Red List (Low Evidence).

25 May 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NME8 were changed from to Ciliary dyskinesia, primary, 6, MIM# 610852

25 May 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NME8 were set to

25 May 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NME8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

25 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nme8 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NME8 was added gene: NME8 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NME8 was set to Unknown