Skeletal dysplasia
Gene: FBN1
Acromelic dysplasias gp of SD, Overgrowth (tall stature) syndromes with skeletal involvement. Several MFS, GPHYSD2 & ACMICD cases reported with variants in this gene, but only one case with Weill-Marchesani. GPHYSD2 and ACMICD are allelic with variants in exons 41-42. Gene also associated with 129600, 616914, 604308, 184900.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acromicric dysplasia 102370; Geleophysic dysplasia 2 614185; Marfan syndrome 154700; Stiff skin syndrome 184900; Weill-Marchesani syndrome 2, dominant 608328
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: FBN1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:48 p.m.
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acromicric dysplasia 102370; Geleophysic dysplasia 2 614185; Marfan syndrome 154700; Stiff skin syndrome 184900; Weill-Marchesani syndrome 2, dominant 608328
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Geleophysic dysplasia 2 614185; Stiff skin syndrome 184900; Marfan syndrome 154700; Acromicric dysplasia 102370; Weill-Marchesani syndrome 2, dominant 608328 for gene: FBN1
Source NHS GMS was added to FBN1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for FBN1 were set to Acromicric dysplasia 102370; Geleophysic dysplasia 2 614185; Marfan syndrome 154700; Stiff skin syndrome 184900; Weill-Marchesani syndrome 2, dominant 608328
Mode of inheritance for FBN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
FBN1 was added to Unexplained skeletal dysplasiapanel. Sources:
FBN1 was created by sleigh