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Intellectual disability

Gene: FOXP4

Amber List (moderate evidence)

FOXP4 (forkhead box P4)
EnsemblGeneIds (GRCh38): ENSG00000137166
EnsemblGeneIds (GRCh37): ENSG00000137166
OMIM: 608924, Gene2Phenotype
FOXP4 is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). As ID is not present in the majority of affected patients, and the affected individuals only show mild ID, this gene has been given an Amber rating.
Created: 4 Dec 2020, 2:30 p.m. | Last Modified: 4 Dec 2020, 2:30 p.m.
Panel Version: 3.582

Zornitza Stark (Australian Genomics)

I don't know

This gene is a little bit difficult to place, may be Green on Fetal Anomalies panel?

Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays, hence Amber rating here.
Sources: Literature
Created: 4 Nov 2020, 3:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder; multiple congenital abnormalities

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder
  • multiple congenital abnormalities
OMIM
608924
Clinvar variants
Variants in FOXP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: foxp4 has been classified as Amber List (Moderate Evidence).

4 Nov 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: FOXP4 was added gene: FOXP4 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXP4 were set to 33110267 Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities Review for gene: FOXP4 was set to AMBER