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Skeletal dysplasia

Gene: FBN1

Green List (high evidence)

FBN1 (fibrillin 1)
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 16 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 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

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

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.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Geleophysic dysplasia 2 614185
  • Stiff skin syndrome 184900
  • Marfan syndrome 154700
  • Acromicric dysplasia 102370
  • Weill-Marchesani syndrome 2, dominant 608328
OMIM
134797
Clinvar variants
Variants in FBN1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FBN1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

7 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

7 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for FBN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

FBN1 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FBN1 was created by sleigh