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  3. FOXE1
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Choanal atresia

Gene: FOXE1

Green List (high evidence)
FOXE1 (forkhead box E1)
EnsemblGeneIds (GRCh38): ENSG00000178919
EnsemblGeneIds (GRCh37): ENSG00000178919
OMIM: 602617, Gene2Phenotype
FOXE1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported, choanal atresia is a feature in addition to congenital hypothyroidism, with thyroid dysgenesis, cleft palate, spiky hair, and bifid epiglottis.
Created: 26 Mar 2021, 10 a.m. | Last Modified: 26 Mar 2021, 10 a.m.
Panel Version: 0.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bamforth-Lazarus syndrome, MIM# 241850

Publications

Created: 26 Mar 2021, 10 a.m.
Last Modified: 26 Mar 2021, 10 a.m.
Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Literature
Phenotypes
  • Bamforth-Lazarus syndrome, MIM# 241850
  • MONDO:0009437
OMIM
602617
Clinvar variants
Variants in FOXE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FOXE1 were changed from Bamforth-Lazarus syndrome, MIM# 241850 to Bamforth-Lazarus syndrome, MIM# 241850; MONDO:0009437

26 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxe1 has been classified as Green List (High Evidence).

26 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FOXE1 were changed from Bamforth-Lazarus syndrome 241850 to Bamforth-Lazarus syndrome, MIM# 241850

26 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FOXE1 were set to 20453517; 24219130; 9697705

25 Mar 2021, Gel status: 3

Added New Source, Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Genomics England PanelApp was added to FOXE1. Added phenotypes Bamforth-Lazarus syndrome 241850 for gene: FOXE1 Publications for gene FOXE1 were updated from 20453517; 24219130; 9697705 to 20453517; 24219130; 9697705

25 Mar 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXE1 was added gene: FOXE1 was added to Choanal atresia. Sources: Expert Review Green,Literature,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXE1 were set to 20453517; 24219130; 9697705 Phenotypes for gene: FOXE1 were set to Bamforth-Lazarus syndrome 241850