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Research panel - Severe Paediatric Disorders

Gene: FBN1

Green List (high evidence)
FBN1 (fibrillin 1)
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 14 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FBN1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Acromicric dysplasia, 102370 (3) | Ectopia lentis, familial, 129600 (3) | Geleophysic dysplasia 2, 614185 (3) | MASS syndrome, 604308 (3) | Marfan lipodystrophy syndrome, 616914 (3) | Marfan syndrome, 154700 (3) | Stiff skin syndrome, 184900 (3) | Weill-Marchesani syndrome 2, dominant, 608328 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | ND | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Weill-Marchesani syndrome 2, dominant, 608328
  • Ectopia lentis, familial, 129600
  • Geleophysic dysplasia 2, 614185
  • Marfan lipodystrophy syndrome, 616914
  • Stiff skin syndrome, 184900
  • Marfan syndrome, 154700
  • MASS syndrome, 604308
  • Acromicric dysplasia, 102370
OMIM
134797
Clinvar variants
Variants in FBN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene FBN1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene FBN1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; Marfan lipodystrophy syndrome, 616914; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; Marfan syndrome, 154700; MASS syndrome, 604308; Acromicric dysplasia, 102370 for gene: FBN1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; Marfan lipodystrophy syndrome, 616914; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; Marfan syndrome, 154700; MASS syndrome, 604308; Acromicric dysplasia, 102370 for gene: FBN1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; Marfan lipodystrophy syndrome, 616914; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; Marfan syndrome, 154700; MASS syndrome, 604308; Acromicric dysplasia, 102370 for gene: FBN1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Marfan syndrome, 154700; Weill-Marchesani syndrome 2, dominant, 608328; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; MASS syndrome, 604308; Marfan lipodystrophy syndrome, 616914; Acromicric dysplasia, 102370; Ectopia lentis, familial, 129600 for gene: FBN1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to FBN1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to FBN1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: FBN1 was added gene: FBN1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FBN1 was set to