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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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.
Sources: Literature
Created: 2 Nov 2020, 6:59 a.m. | Last Modified: 2 Nov 2020, 7:02 a.m.
Panel Version: 0.3139

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 Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), FOXP4-related
OMIM
608924
Clinvar variants
Variants in FOXP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: FOXP4 were changed from Neurodevelopmental disorder (MONDO#0700092), FOXP4-related to Neurodevelopmental disorder (MONDO#0700092), FOXP4-related

8 Nov 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: FOXP4 were changed from Neurodevelopmental disorder (MONDO#0700092), FOXP4-related to Neurodevelopmental disorder (MONDO#0700092), FOXP4-related

8 Nov 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: FOXP4 were changed from Neurodevelopmental disorder; multiple congenital abnormalities to Neurodevelopmental disorder (MONDO#0700092), FOXP4-related

8 Nov 2023, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: FOXP4 were set to 33110267

8 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: foxp4 has been classified as Green List (High Evidence).

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXP4 was added gene: FOXP4 was added to Intellectual disability syndromic and non-syndromic. 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 GREEN