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  3. FOXP1
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Fetal anomalies

Gene: FOXP1

Red List (low evidence)
FOXP1 (forkhead box P1)
EnsemblGeneIds (GRCh38): ENSG00000114861
EnsemblGeneIds (GRCh37): ENSG00000114861
OMIM: 605515, Gene2Phenotype
FOXP1 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported as part of a CDH cohort. Otherwise clinical presentation is typically post-natal.
Sources: Literature
Created: 21 Jun 2021, 8:27 a.m. | Last Modified: 17 Feb 2022, 7:36 a.m.
Panel Version: 0.3643

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation with language impairment and with or without autistic features, MIM# 613670

Publications

Created: 21 Jun 2021, 8:27 a.m.
Last Modified: 17 Feb 2022, 7:36 a.m.
Panel version: Imported from Congenital diaphragmatic hernia panel version 0.90

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation with language impairment and with or without autistic features 613670

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Jan 2020, 10:44 p.m.
Last Modified: 9 Jan 2020, 10:44 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1530

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Mental retardation with language impairment and with or without autistic features, MIM# 613670
OMIM
605515
Clinvar variants
Variants in FOXP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxp1 has been classified as Red List (Low Evidence).

17 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FOXP1 were changed from MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES to Mental retardation with language impairment and with or without autistic features, MIM# 613670

17 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FOXP1 were set to

17 Feb 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FOXP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXP1 was added gene: FOXP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXP1 were set to MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES