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  3. FOXE1
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Congenital hypothyroidism

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)

At least 5 unrelated families reported with hypothyroidism, cleft palate and hair abnormalities.
Created: 3 Feb 2021, 10:10 a.m. | Last Modified: 3 Feb 2021, 10:10 a.m.
Panel Version: 0.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bamforth-Lazarus syndrome, MIM# 241850

Publications

Created: 3 Feb 2021, 10:10 a.m.
Last Modified: 3 Feb 2021, 10:10 a.m.
Panel version: 0.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Bamforth Lazarus syndrome, MIM#241850 (hypothyroidism)
  • Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850
OMIM
602617
Clinvar variants
Variants in FOXE1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

3 Feb 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 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850 to Bamforth Lazarus syndrome, MIM#241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850

3 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FOXE1 were set to 20484477; 9697705; 24219130 (gain-of-function mutation); 9697704 (mouse model)

3 Feb 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).

3 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FOXE1 were changed from choanal atresia; congenital hypothyroidism; Bamforth Lazarus syndrome, 241850 (hypothyroidism); spiky hair; thyroid agenesis; Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850; cleft palate to Bamforth Lazarus syndrome, 241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850

3 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXE1 was added gene: FOXE1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXE1 were set to 20484477; 9697705; 24219130 (gain-of-function mutation); 9697704 (mouse model) Phenotypes for gene: FOXE1 were set to choanal atresia; congenital hypothyroidism; Bamforth Lazarus syndrome, 241850 (hypothyroidism); spiky hair; thyroid agenesis; Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850; cleft palate Mode of pathogenicity for gene: FOXE1 was set to Other - please provide details in the comments