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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 14 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease FBN1-related Marfan syndrome, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 12161601;11391655;11710961;18412115;15287423;15032979;17679947;8430317; 8004112;7945217;11175294;12402346;17663468;17189636;15054843;10090884;10766875;23103230;23023332;14695540;17366579; 12413333;11524736;10694921;11453977;1569206;8863159;12446365;8136837;17657824;7633409;16930007;7911051;20979188;8281141; 17701892;14586646;8882780;8428751;10756346;37684520;1631074;8504310;7611299;10364683;7762551;21594993;1301946;7915876;8040326; 8071963;8101042;16617303;10189089;12890380;11700157;16220557;9101298;8406497;10441700;12203992;10425041;7870075;17492313; 21594992;17568394;12915484;11702223;9837823;35058154;15241795;16222657;9241263;20082464;7622614;10721679;10441597; 15161620;11139245;16333834;9452085;1852208). The DDG2P confidence category for the disease FBN1-related Weill-Marchesani syndrome, OMIM:608328 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 12525539;22242013;25142510;28696036;23897642;8406497;37734846;34075901). The DDG2P confidence category for the disease FBN1-related Marfan syndrome, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 8428751;1631074;8504310;7611299;21594993;7762551;24698609;18412115;15287423;15032979;1301946;31950671;8040326;8430317; 8101042;28636274;27582083;9101298;8406497;20886638;11175294;7977366;10766875;17492313;21594992;17568394;17366579; 11702223;19059503;33436942;9837823;23278365;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188; 8281141;8880577;16333834;1852208).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394; 27582083; 31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751; 8504310; 1631074; 7611299; 21594993; 7762551; 18412115; 1301946; 15287423; 15032979; 8430317; 8040326; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 7911051; 20979188; 8281141; 1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751; 8504310; 1631074; 7611299; 7762551; 21594993; 18412115; 1301946; 15032979; 15287423; 8430317; 8040326; 8071963; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 23103230; 23023332; 17568394; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 8281141; 20979188; 7911051; 16333834; 1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539; 23897642).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 12 Oct 2023, 11:49 a.m.
Panel Version: 3.73

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Marfan Syndrome, biallelic, OMIM:154700; FBN1-related Marfan syndrome, OMIM:154700; MARFAN SYNDROME, OMIM:154700; WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; FBN1-related Weill-Marchesani syndrome, OMIM:608328; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 12 Oct 2023, 11:49 a.m.
Panel version: 4.10

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.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.55

History Filter Activity

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: FBN1 were changed from WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700 to WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: FBN1 were changed from WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700 to WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: FBN1 were changed from 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 to WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: FBN1.

4 Oct 2023, Gel status: 3

Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene FBN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FBN1 were updated from 8406497 to 1852208; 1631074; 31950671; 17366579; 9241263; 7611299; 1569206; 1301946; 11175294; 9101298; 9837823; 15032979; 17492313; 7762551; 23103230; 23897642; 21594992; 8136837; 7633409; 15287423; 12525539; 8504310; 20979188; 10766875; 16333834; 8281141; 23023332; 11702223; 17568394; 20082464; 27582083; 8101042; 8071963; 7911051; 8040326; 21594993; 10441597; 18412115; 8428751; 8406497; 8430317

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