Cataracts

Gene: FBN1

Red List (low evidence)

FBN1 (fibrillin 1)
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 15 panels

3 reviews

Anna de Burca (Genomics England Curator)

Red List (low evidence)

In a family with apparently autosomal dominant Weill-Marchesani syndrome, PMID:12525539 reported a 24bp in frame deletion with cosegregated with disease. This is currently insufficient evidence for disease association.
Created: 19 Feb 2019, 10:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
WEILL-MARCHESANI SYNDROME 2

Publications

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Publications

  • Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633
  • Li et al (2004) Mol Vis 20:1017

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: After feedback from reviewer, it was decided this should be demoted to red as this is a cataract-only panel.
Created: 14 Jun 2016, 1:05 p.m.
Comment on list classification: Promoted to green due to expert review and evidence provided.
Created: 31 May 2016, 9:28 a.m.
Is on the Manchester congenital cataracts gene panel. Confirmed DD gene for Marfan syndrome and a possible DD gene for Weill-Marchesani syndrome (include cataract as a phenotype).
Created: 29 Apr 2016, 11:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • congenital ectopia lentis
  • Marfan syndrome
  • Weill-Marchesani syndrome
OMIM
134797
Clinvar variants
Variants in FBN1
Penetrance
Complete
Publications
  • Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633
  • Li et al (2004) Mol Vis 20:1017
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

31 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FBN1 were set to Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633; Li et al (2004) Mol Vis 20:1017

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FBN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FBN1 were set to congenital ectopia lentis; Marfan syndrome; Weill-Marchesani syndrome

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FBN1 was added to Cataractspanel. Sources: UKGTN