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Arthrogryposis

Gene: FBN2

Green List (high evidence)

FBN2 (fibrillin 2)
EnsemblGeneIds (GRCh38): ENSG00000138829
EnsemblGeneIds (GRCh37): ENSG00000138829
OMIM: 612570, Gene2Phenotype
FBN2 is in 10 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

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

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

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • 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
Tags
Q2_21_MOI
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

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

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

FBN2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

4 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for FBN2 were set to Contractural arachnodactyly, congenital 121050

4 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for FBN2 were set to 7493032

4 Jan 2017, Gel status: 4

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for FBN2 was changed to Other - please provide details in the comments

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FBN2 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FBN2 was created by ellenmcdonagh