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DDG2P

Gene: FBN1

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: Changed MOI from 'Both monoallelic and biallelic' to 'MONOALLELIC' to match current DDG2P Allelic requirement, which is 'monoallelic' for confirmed MARFAN SYNDROME, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, and MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE.
Created: 27 Nov 2019, 10:38 p.m. | Last Modified: 27 Nov 2019, 10:38 p.m.
Panel Version: 1.167
Comment on mode of inheritance: In DDG2P, MOI is listed as both monoallelic (dominant negative) and biallelic (loss of function) for confirmed MARFAN SYNDROME; monoallelic for confirmed MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; monoallelic for confirmed SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME.
Created: 11 Jun 2019, 3:27 p.m.
Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MARFAN SYNDROME; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.
Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:49 p.m.
Multiple MOPs in DD-G2P download: all missense/in frame, dominant negative, loss of function. Multiple MOIs in DD-G2P download: monoallelic and biallelic. Multiple ratings in DD-G2P download: Rated confirmed for biallelic MARFAN SYNDROME 154700, monoallelic MARFAN SYNDROME 154700, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212 and MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 604308. Rated possible for ISOLATED ECTOPIA LENTIS 129600 and WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • ISOLATED ECTOPIA LENTIS 129600
  • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212
  • MARFAN SYNDROME 154700
  • WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328
  • MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 604308
Tags
watchlist
OMIM
134797
Clinvar variants
Variants in FBN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: FBN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

11 Jun 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

29 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Multiple MOPs in DD-G2P downlo

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: fbn1 has been classified as Green List (High Evidence).

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: FBN1.

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 604308 for gene: FBN1 Publications for gene FBN1 were changed from 8136837; 7802039; 22539873 to 8406497

19 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328 for gene: FBN1

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes ISOLATED ECTOPIA LENTIS 129600 for gene: FBN1 Publications for gene FBN1 were changed from 23103230; 16333834; 8071963; 23023332 to 8136837; 7802039; 22539873

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212 for gene: FBN1 Publications for gene FBN1 were changed from 17568394; 17366579; 16333834; 7611299; 10766875; 8136837; 1631074; 8428751; 11702223; 7762551; 8040326; 8281141; 15032979; 1301946; 1569206; 10441597; 11175294; 20979188; 8430317; 9101298; 9241263; 7911051; 9837823; 1852208; 8504310; 8101042; 21594993; 20082464; 15287423; 21594992; 18412115; 17492313; 8406497; 7633409 to 23103230; 16333834; 8071963; 23023332

19 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MARFAN SYNDROME 154700 for gene: FBN1

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: FBN1 was added gene: FBN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FBN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FBN1 were set to 17568394; 17366579; 16333834; 7611299; 10766875; 8136837; 1631074; 8428751; 11702223; 7762551; 8040326; 8281141; 15032979; 1301946; 1569206; 10441597; 11175294; 20979188; 8430317; 9101298; 9241263; 7911051; 9837823; 1852208; 8504310; 8101042; 21594993; 20082464; 15287423; 21594992; 18412115; 17492313; 8406497; 7633409 Phenotypes for gene: FBN1 were set to MARFAN SYNDROME 154700