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  2. Congenital diaphragmatic hernia
  3. FOXP1
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Congenital diaphragmatic hernia

Gene: FOXP1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported as part of a CDH cohort.
Sources: Literature
Created: 21 Jun 2021, 8:27 a.m.

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.

Panel version: 0.90

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • 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

21 Jun 2021, 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).

21 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXP1 was added gene: FOXP1 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXP1 were set to 33461977 Phenotypes for gene: FOXP1 were set to Mental retardation with language impairment and with or without autistic features, MIM# 613670 Review for gene: FOXP1 was set to RED