Laterality disorders and isomerism
Gene: NME8EnsemblGeneIds (GRCh38): ENSG00000086288
EnsemblGeneIds (GRCh37): ENSG00000086288
OMIM: 607421, Gene2Phenotype
NME8 is in 9 panels
2 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
No further cases reported since 2015. Discussed with NHS GMS respiratory specialist group including Hannah Mitchison 18/01/19, decision made to downgrade to red.Created: 18 Jan 2019, 9:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- PMID:17360648
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: NME8; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 12:52 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- OMIM
- 607421
- Clinvar variants
- Variants in NME8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: NME8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: NME8 were set to
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: nme8 has been classified as Red List (Low Evidence).
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to NME8. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: NME8 was added gene: NME8 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: NME8 was set to