Approved symbol | FBN1 |
---|---|
Approved name | fibrillin 1 |
HGCN ID | HGNC:3603 |
Previous symbols | FBN, MFS1, WMS |
Inheritance | |
OMIM | 134797 |
Chromosome | 15q21.1 |
Panel(s) |
FBN1 Analysis NGS Aortic and arterial dilatation/dissection NGS Congenital Heart Defects NGS Ehlers-Danlos syndromes NGS Intellectual disability NGS Lens luxation and related syndromes NGS Marfan syndrome and marfan-like disorders NGS Mendeliome NGS Skeletal Dysplasia NGS Treatable metabolic neurodegenerative disorders |