Skeletal dysplasia
Gene: FBN2
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
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.
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
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
Tag Q2_21_MOI was removed from gene: FBN2.
Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly, congenital 121050 to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363
Publications for gene: FBN2 were set to 7493032; 33571691; 25558065; 28383543
Publications for gene: FBN2 were set to
Tag Q2_21_MOI tag was added to gene: FBN2.
Added phenotypes Contractural arachnodactyly, congenital 121050 for gene: FBN2
Source NHS GMS was added to FBN2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for FBN2 were set to Contractural arachnodactyly, congenital 121050
Mode of inheritance for FBN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
FBN2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
FBN2 was added to Unexplained skeletal dysplasiapanel. Sources:
FBN2 was created by sleigh