Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: NFIX
NFIX (nuclear factor I X)
EnsemblGeneIds (GRCh38): ENSG00000008441
EnsemblGeneIds (GRCh37): ENSG00000008441
OMIM: 164005, Gene2Phenotype
NFIX is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000008441
EnsemblGeneIds (GRCh37): ENSG00000008441
OMIM: 164005, Gene2Phenotype
NFIX is in 7 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and Green rating from Kate Tatton-Brown April 2017Created: 31 May 2019, 8:40 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review. It is a confirmed DD gene for Sotos-like syndrome and Marshall-Smith Syndrome.Created: 29 Mar 2016, 1:28 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Marshall-Smith syndrome, 602535
- Sotos syndrome 2, 614753
- OMIM
- 164005
- Clinvar variants
- Variants in NFIX
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2019, Gel status: 3
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: NFIX were set to PMID: 25118028
29 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)NFIX was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
29 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NFIX was created by ellenmcdonagh