Pulmonary Fibrosis_Interstitial Lung Disease
Gene: FBN1
FBN1 (fibrillin 1)
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 24 panels
1 review
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Marfan syndrome, MIM# 154700
- neonatal
- OMIM
- 134797
- Clinvar variants
- Variants in FBN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Additional findings_Adult
- Glaucoma congenital
- Pulmonary Fibrosis_Interstitial Lung Disease
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Pneumothorax
- Hand and foot malformations
- Craniosynostosis
- Incidentalome
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Lipodystrophy_Lipoatrophy
- Eye Anterior Segment Abnormalities
- Congenital diaphragmatic hernia
- Cataract
- Aortopathy_Connective Tissue Disorders
- Interstitial Lung Disease
- Spontaneous coronary artery dissection
History Filter Activity
29 Jul 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fbn1 has been classified as Green List (High Evidence).
29 Jul 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fbn1 has been classified as Green List (High Evidence).
29 Jul 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FBN1 was added gene: FBN1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to 31238364; 27138491; 17701892 Phenotypes for gene: FBN1 were set to Marfan syndrome, MIM# 154700; neonatal Review for gene: FBN1 was set to GREEN