Interstitial Lung Disease
Gene: FOXP1EnsemblGeneIds (GRCh38): ENSG00000114861
EnsemblGeneIds (GRCh37): ENSG00000114861
OMIM: 605515, Gene2Phenotype
FOXP1 is in 11 panels
1 review
Suzanna Lindsey-Temple (Liverpool Hospital)
PMID: 28884888 - single case of neuroendocrine hyperplasia of infancy (NEHI) first diagnosed at 4 months old with increased work of breathing, failure to thrive, and pulmonary hypertension.Created: 6 Nov 2021, 4:51 a.m. | Last Modified: 6 Nov 2021, 4:51 a.m.
Panel Version: 0.183
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotonia, developmental delay, atrial septal defect - neuroendocrine hyperplasia of infancy (NEHI)
Publications
- PMID: 28884888
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hypotonia, developmental delay, atrial septal defect - neuroendocrine hyperplasia of infancy (NEHI)
- OMIM
- 605515
- Clinvar variants
- Variants in FOXP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Congenital Heart Defect
- Incidentalome_PREGEN_DRAFT
- Mendeliome
- Congenital diaphragmatic hernia
- Interstitial Lung Disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Autism
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxp1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FOXP1 were changed from to Hypotonia, developmental delay, atrial septal defect - neuroendocrine hyperplasia of infancy (NEHI)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FOXP1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxp1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FOXP1 was added gene: FOXP1 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXP1 was set to Unknown