Structural eye disease
Gene: FBN1EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 14 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Many cases with ectopia lentis, either as part of Marfan syndrome or isolatedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ectopia lentis, familial; Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome 2, dominant; Marfan lipodystrophy syndrome; 129600; 154700; 604308; 608328; 616914
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Many cases with ectopia lentis, either as part of Marfan syndrome or isolatedCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ectopia lentis, familial; Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome 2, dominant; Marfan lipodystrophy syndrome; 129600; 154700; 604308; 608328; 616914
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Marfan syndrome, 154700
- Weill-Marchesani syndrome 2, dominant, 608328
- MASS syndrome, 604308
- Marfan lipodystrophy syndrome, 616914
- Ectopia lentis, familial, 129600
- OMIM
- 134797
- Clinvar variants
- Variants in FBN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Pneumothorax - familial
- Thoracic aortic aneurysm or dissection (GMS)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Lipodystrophy - childhood onset
- Thoracic aortic aneurysm or dissection
- Fetal anomalies
- DDG2P
- Structural eye disease
- Skeletal dysplasia
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FBN1 was added gene: FBN1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to 1301946, 8136837 Phenotypes for gene: FBN1 were set to Marfan syndrome, 154700; Weill-Marchesani syndrome 2, dominant, 608328; MASS syndrome, 604308; Marfan lipodystrophy syndrome, 616914; Ectopia lentis, familial, 129600