Bleeding and Platelet Disorders
Gene: FBN2

FBN2 (fibrillin 2)
EnsemblGeneIds (GRCh38): ENSG00000138829
EnsemblGeneIds (GRCh37): ENSG00000138829
OMIM: 612570, Gene2Phenotype
FBN2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

I am unable to find a link between FBN2 and bleeding disorders.
Created: 31 Mar 2020, 12:59 a.m. | Last Modified: 31 Mar 2020, 12:59 a.m.

Panel Version: 0.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Contractural arachnodactyly, congenital 121050; Macular degeneration, early-onset 616118

Created: 31 Mar 2020, 12:59 a.m.
Last Modified: 31 Mar 2020, 12:59 a.m.
Panel version: 0.13

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Variants in the EGF-repeat domains of FBN1/FBN2, specifically involving cysteine (involved in disulphide binding) are commonly reported.

Highly homologous to FBN1
Created: 29 Mar 2020, 8:27 p.m. | Last Modified: 29 Mar 2020, 8:27 p.m.

Panel Version: 0.1842

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Contractural arachnodactyly, congenital 121050; Macular degeneration, early-onset 616118

Publications

PMID 19473076
11068201

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Mar 2020, 8:27 p.m.
Last Modified: 29 Mar 2020, 8:27 p.m.
Panel version: Imported from Mendeliome panel version 0.1842

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Contractural arachnodactyly, congenital 121050
Macular degeneration, early-onset 616118

OMIM

612570

Clinvar variants

Variants in FBN2

Penetrance

None

Panels with this gene