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Ductal plate malformation

Gene: NME8

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

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Red gene on Rare ciliopathy panel. Demoted from amber to red as insufficient evidence
Created: 12 Nov 2018, 1:55 p.m.
Created: 12 Nov 2018, 1:55 p.m.

Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Ciliary dyskinesia, primary, 6 (610852)
OMIM
607421
Clinvar variants
Variants in NME8
Penetrance
None
Panels with this gene

History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Red gene on Rare ciliopathy pa

12 Nov 2018, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to NME8. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

6 Nov 2018, Gel status: 2

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Emory Genetics Laboratory was added to NME8. Source UKGTN was added to NME8. Rating Changed from No List (delete) to Amber List (moderate evidence)

6 Nov 2018, Gel status: 0

Clear Sources

Ivone Leong (Genomics England Curator)

All sources for gene: NME8 were removed

6 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: NME8 was added gene: NME8 was added to Ductal plate malformation (DPM). Sources: UKTGN,Emory Genetics Laboratory Mode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NME8 were set to Ciliary dyskinesia, primary, 6 (610852)