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Skeletal dysplasia

Gene: FBN2

Green List (high evidence)
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)

Green List (high evidence)

The association between mono-allelic variants in FBN2 and CCA is well established. Recent report of bi-allelic variants, Kloth (2021): biallelic FBN2 variants (PTC/missense) in a teenager with severe CCA, including cardiac defects, mild scoliosis and muscular involvement. Carrier parents both "healthy/unaffected". Phenotype matches mouse K/O. Authors performed a lit review and identified an additional 2 homozygous patients (both missense variants) with - fetal akinesia, brain ischemia and neonatal death - severe muscle weakness with bilateral clubfeet, a pronounced gait disturbance, recurrent patellar dislocations, flexion contractures, camptodactyly, widespread striae and an unusual myofibrillar disorganization, variation in fiber size and atrophic fibers in muscle biopsy.
Created: 9 Apr 2021, 4:12 a.m. | Last Modified: 9 Apr 2021, 4:12 a.m.
Panel Version: 0.86

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Contractural arachnodactyly, congenital MIM#121050

Publications

Created: 9 Apr 2021, 4:12 a.m.
Last Modified: 9 Apr 2021, 4:12 a.m.
Panel version: 0.86

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

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Contractural arachnodactyly, congenital 121050
OMIM
612570
Clinvar variants
Variants in FBN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbn2 has been classified as Green List (High Evidence).

9 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FBN2 were set to

9 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FBN2 was added gene: FBN2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital 121050