Skeletal dysplasia
Gene: FBN2EnsemblGeneIds (GRCh38): ENSG00000138829
EnsemblGeneIds (GRCh37): ENSG00000138829
OMIM: 612570, Gene2Phenotype
FBN2 is in 8 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Overgrowth (tall stature) syndromes with skeletal involvement gp of SD - at least 3 cases reported. Variants also associated with early-onset macular degeneration - 616118.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Contractural arachnodactyly, congenital 121050
Eleanor Williams (Genomics England Curator)
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 6 Mar 2022, 6:30 p.m. | Last Modified: 6 Mar 2022, 6:30 p.m.
Panel Version: 2.184
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FBN2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
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, 12:31 p.m. | Last Modified: 28 Apr 2021, 12:31 p.m.
Panel Version: 2.91
Comment when marking as ready: Associated with phenotypes in OMIM and with contractural arachnodactyly, congenital 121050 in G2P. Numerous variants reported contractural arachnodactyly, congenital 121050 and at least two in Macular degeneration, early-onset 616118Created: 28 Jul 2016, 11:33 a.m.
Comment on phenotypes: Variants also reported in Macular degeneration, early-onset 616118Created: 28 Jul 2016, 11:31 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Contractural arachnodactyly, congenital 121050; Macular degeneration, early-onset 616118
Variants in this GENE are reported as part of current diagnostic practice
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
- UKGTN
- 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
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_MOI was removed from gene: FBN2.
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363 to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363
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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FBN2 were set to 7493032; 33571691; 25558065; 28383543
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FBN2 were set to
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_MOI tag was added to gene: FBN2.
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Contractural arachnodactyly, congenital 121050 for gene: FBN2
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to FBN2. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FBN2 were set to Contractural arachnodactyly, congenital 121050
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for FBN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Upload gene information
Sarah Leigh (Genomics England Curator)FBN2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)FBN2 was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)FBN2 was created by sleigh