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| DDG2P v4.10 | FBN1 | Achchuthan Shanmugasundram edited their review of gene: FBN1: Added comment: 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).; Changed publications to: 10189089, 17568394, 10441700, 8882780, 17679947, 8101042, 7911051, 8430317, 23897642, 18412115, 20979188, 11710961, 8071963, 15161620, 24698609, 28696036, 12203992, 10756346, 16617303, 27582083, 7611299, 37684520, 16222657, 16220557, 37734846, 34075901, 25142510, 15032979, 20082464, 14586646, 22242013, 15287423, 17657824, 17701892, 10090884, 11453977, 31950671, 19059503, 10721679, 9101298, 12890380, 11700157, 10441597, 7945217, 20886638, 7633409, 17492313, 12413333, 11702223, 12446365, 1301946, 1569206, 17366579, 7622614, 8281141, 10694921, 35058154, 7870075, 33436942, 8040326, 11139245, 21594992, 12525539, 11524736, 23278365, 17189636, 12161601, 8880577, 8406497, 23103230, 11175294, 10766875, 16930007, 21594993, 11391655, 8136837, 23023332, 12915484, 7915876, 15241795, 7977366, 8428751, 7762551, 15054843, 1631074, 8863159, 8504310, 14695540, 10364683, 17663468, 28636274, 10425041, 8004112, 9241263, 12402346, 9452085, 1852208, 16333834, 9837823; Changed phenotypes to: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | FBN1 |
Achchuthan Shanmugasundram changed review comment from: 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).; to: 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). |
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| DDG2P v3.73 | FBN1 |
Achchuthan Shanmugasundram changed review comment from: 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).; to: 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). |
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| DDG2P v3.42 | FBN1 |
Achchuthan Shanmugasundram changed review comment from: 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).; to: 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). |
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| DDG2P v3.42 | FBN1 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.42 | FBN1 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.42 | FBN1 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.41 | FBN1 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: FBN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBN1 | Achchuthan Shanmugasundram reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1852208, 1631074, 31950671, 17366579, 9241263, 7611299, 1569206, 1301946, 9101298, 11175294, 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; Phenotypes: WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328, MARFAN SYNDROME, OMIM:154700, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212, Marfan Syndrome, biallelic, OMIM:154700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FBN1 |
Achchuthan Shanmugasundram 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 |
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| DDG2P v1.167 | FBN1 | Rebecca Foulger Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.167 | FBN1 | Rebecca Foulger Mode of inheritance for gene: FBN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.61 | FBN1 | Rebecca Foulger Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.61 | FBN1 | Rebecca Foulger Mode of inheritance for gene: FBN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.71 | FBN1 | Rebecca Foulger Classified gene: FBN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.71 | FBN1 | Rebecca Foulger Gene: fbn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | FBN1 | Rebecca Foulger edited their review of gene: FBN1: Added comment: 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.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | FBN1 | Rebecca Foulger Tag watchlist tag was added to gene: FBN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | FBN1 | Rebecca Foulger commented on gene: FBN1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FBN1 | Rebecca Foulger reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FBN1 |
Rebecca Foulger Added phenotypes MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 604308 for gene: FBN1 Publications for gene FBN1 were changed from 8136837; 7802039; 22539873 to 8406497 |
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| DDG2P v0.1 | FBN1 | Rebecca Foulger Added phenotypes WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328 for gene: FBN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FBN1 |
Rebecca Foulger Added phenotypes ISOLATED ECTOPIA LENTIS 129600 for gene: FBN1 Publications for gene FBN1 were changed from 23103230; 16333834; 8071963; 23023332 to 8136837; 7802039; 22539873 |
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| DDG2P v0.1 | FBN1 |
Rebecca Foulger 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 |
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| DDG2P v0.1 | FBN1 | Rebecca Foulger Added phenotypes MARFAN SYNDROME 154700 for gene: FBN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FBN1 |
Rebecca Foulger 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 |
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