Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: NFIX

Green List (high evidence)

NFIX (nuclear factor I X)
EnsemblGeneIds (GRCh38): ENSG00000008441
EnsemblGeneIds (GRCh37): ENSG00000008441
OMIM: 164005, Gene2Phenotype
NFIX is in 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Review and Green rating from Kate Tatton-Brown April 2017
Created: 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