Ciliary Dyskinesia

Gene: NME8

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

• PMID: 17360648