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Fetal anomalies

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 AD + AR' to 'MONOALLELIC' only to match current DDG2P Allelic requirement of 'monoallelic' for all confirmed disorders (SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; MARFAN SYNDROME; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE).
Created: 27 Nov 2019, 10:40 p.m. | Last Modified: 27 Nov 2019, 10:40 p.m.
Panel Version: 0.355
Additional evidence from PMID:30266093: AD/de novo het variant identified in FBN1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).
Created: 18 Apr 2019, 3:55 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for biallelic and monoallelic MARFAN SYNDROME, Confirmed for SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, and Confirmed for MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as Dominant negative for monoallelic MARFAN SYNDROME and SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME. MOP listed as LOF for biallelic MARFAN SYNDROME and MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE.
Created: 8 Nov 2018, 4:45 p.m.

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
  • MARFAN SYNDROME
  • MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE
OMIM
134797
Clinvar variants
Variants in FBN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: FBN1 were set to

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, NOT imprinted

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE for gene: FBN1

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME for gene: FBN1

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MARFAN SYNDROME for gene: FBN1

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FBN1 was added gene: FBN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FBN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FBN1 were set to MARFAN SYNDROME