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Fetal anomalies

Gene: FBN1

Green List (high evidence)
FBN1 (fibrillin 1)
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 24 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

CDH is a rare feature of FBN1-associated disease.
Sources: Literature
Created: 21 Jun 2021, 8:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Marfan syndrome, MIM# 154700

Publications

Created: 21 Jun 2021, 8:22 a.m.

Panel version: Imported from Congenital diaphragmatic hernia panel version 0.87

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Early cataract are described to occur in Marfan syndrome (OMIM 154700) and close to 30% of patients with Weill-Marchesani syndrome (OMIM 608328)
Created: 8 Jul 2020, 4:26 a.m. | Last Modified: 8 Jul 2020, 4:26 a.m.
Panel Version: 0.180

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 8 Jul 2020, 4:26 a.m.
Last Modified: 8 Jul 2020, 4:26 a.m.
Panel version: Imported from Cataract panel version 0.180

History Filter Activity

21 Dec 2021, 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).

21 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBN1 were changed from MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; MARFAN SYNDROME; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME to Marfan syndrome, MIM# 154700

21 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FBN1 were set to 30266093

24 Oct 2021, Gel status: 3

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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to 30266093 Phenotypes for gene: FBN1 were set to MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; MARFAN SYNDROME; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME