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DDG2P

Gene: FOXP4

Green List (high evidence)
FOXP4 (forkhead box P4)
EnsemblGeneIds (GRCh38): ENSG00000137166
EnsemblGeneIds (GRCh37): ENSG00000137166
OMIM: 608924, Gene2Phenotype
FOXP4 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for FOXP4-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMIDs: 33110267, 36301021). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03059.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease FOXP4-related Developmental Disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36301021;33110267).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease FOXP4-related Developmental Disorder is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:33110267).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0700092; FOXP4-related Developmental Disorder; FOXP4-related developmental disorder

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • FOXP4-related Developmental Disorder
Tags
de novo gene-checked
OMIM
608924
Clinvar variants
Variants in FOXP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: FOXP4 was changed from Other to None

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: FOXP4.

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: FOXP4.

26 Sep 2024, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to FOXP4. Mode of pathogenicity for gene FOXP4 was changed from to Other Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Oct 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FOXP4 was added gene: FOXP4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP4 were set to 33110267 Phenotypes for gene: FOXP4 were set to FOXP4-related Developmental Disorder