Ciliary Dyskinesia
Gene: NME8
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 diseaseCreated: 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
Gene: nme8 has been classified as Red List (Low Evidence).
Phenotypes for gene: NME8 were changed from to Ciliary dyskinesia, primary, 6, MIM# 610852
Publications for gene: NME8 were set to
Mode of inheritance for gene: NME8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: nme8 has been classified as Red List (Low Evidence).
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