Choanal atresia

Gene: FOXE1

Green List (high evidence)

FOXE1 (forkhead box E1)
EnsemblGeneIds (GRCh38): ENSG00000178919
EnsemblGeneIds (GRCh37): ENSG00000178919
OMIM: 602617, Gene2Phenotype
FOXE1 is in 7 panels

2 reviews

Sofia Douzgou (Manchester Centre of Genomic Medicine)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Also associated with Thyroid cancer, nonmedullary, 616534
Created: 10 Aug 2016, 2:04 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported
Created: 10 Aug 2016, 2:03 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bamforth-Lazarus syndrome 241850
OMIM
602617
Clinvar variants
Variants in FOXE1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FOXE1 were set to 9697705; 24219130; 20453517

12 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FOXE1 were set to 9697705; 24219130

11 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1, 11th August 2016

10 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FOXE1 were set to Bamforth-Lazarus syndrome 241850

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

FOXE1 was added to Choanal atresiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

10 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FOXE1 were set to 9697705

10 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FOXE1 were set to Bamforth-Lazarus syndrome 241850

13 Oct 2015, Gel status: 0

Added New Source

Sofia Douzgou (Manchester Centre of Genomic Medicine)

FOXE1 was added to Choanal atresiapanel. Sources: Literature