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BabyScreen+ newborn screening

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Cat C babyseq for mod gene disease association, on our mendeliome, newer papers (including 2022) so evidence stronger now.
on Guardian and Rxgenes
Hypothyroidism due to absent thyroid, choanal atresia, cleft palate and spiky hair +/- hearing loss
Treatable (normal growth and cognitive outcome with thyroxine) and would be detected on NBS for hypothyroidism +/- hearing loss
Created: 24 Feb 2023, 10:22 a.m. | Last Modified: 24 Feb 2023, 10:22 a.m.
Panel Version: 0.1872

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bamforth-Lazarus syndrome MIM# 241850

Publications

Created: 24 Feb 2023, 10:22 a.m.
Last Modified: 24 Feb 2023, 10:22 a.m.
Panel version: 0.1872

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Bamforth-Lazarus syndrome MIM# 241850
Tags
treatable endocrine deafness
OMIM
602617
Clinvar variants
Variants in FOXE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2023, 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).

3 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FOXE1 were set to

3 Mar 2023, 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).

3 Mar 2023, Gel status: 1

Added Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: FOXE1. Tag endocrine tag was added to gene: FOXE1. Tag deafness tag was added to gene: FOXE1.

18 Sep 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXE1 was added gene: FOXE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXE1 were set to Bamforth-Lazarus syndrome