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Arthrogryposis
Gene: FBN2

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 11 Mar 2022, 1:41 p.m. | Last Modified: 11 Mar 2022, 1:41 p.m.

Panel Version: 3.154

It would appear from PMIDs 33571691, 25558065 & 28383543 that biallelic variants should be considered for this gene and as such the MOI should be changed to BOTH monallelic and biallelic, autosomal or pseudoautosomal.
Created: 28 Apr 2021, 12:11 p.m. | Last Modified: 28 Apr 2021, 12:11 p.m.

Panel Version: 3.95

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 28 Apr 2021, 12:11 p.m.
Last Modified: 28 Apr 2021, 12:11 p.m.
Panel version: 3.154

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Association between mono-allelic variants and CCA is well established.

Kloth (2021): report 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 literature 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: 17 Apr 2021, 7:50 a.m. | Last Modified: 17 Apr 2021, 7:50 a.m.

Panel Version: 3.91

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Contractural arachnodactyly, congenital MIM#121050

Publications

33571691

Created: 17 Apr 2021, 7:50 a.m.
Last Modified: 17 Apr 2021, 7:50 a.m.
Panel version: 3.91

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on mode of pathogenicity: Dominant negative mutations
Created: 4 Jan 2017, 4:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Contractural arachnodactyly, congenital 121050

Publications

7493032

Mode of pathogenicity
Other

Created: 4 Jan 2017, 4:17 p.m.

Panel version: 1.195

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Expert list

Phenotypes

Contractural arachnodactyly, congenital OMIM:121050
congenital contractural arachnodactyly MONDO:0007363

OMIM

612570

Clinvar variants

Variants in FBN2

Penetrance

Complete

Publications

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

11 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_MOI was removed from gene: FBN2.

11 Mar 2022, Gel status: 3

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FBN2. Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FBN2 were set to 7493032; 33571691

28 Apr 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_MOI tag was added to gene: FBN2.

28 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly, congenital 121050 to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363

28 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FBN2 were set to 7493032

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 4