Genomics England
GMS Panels
Panels
Genes and Entities

FBN2

fibrillin 2
OMIM: 612570
PanelMode of inheritanceDetails
6 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 7.7
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Contractural arachnodactyly, congenital OMIM:121050, congenital contractural arachnodactyly MONDO:0007363
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Contractural arachnodactyly, congenital OMIM:121050, congenital contractural arachnodactyly MONDO:0007363
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Contractural arachnodactyly, congenital, OMIM:121050
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Contractural arachnodactyly, congenital OMIM:121050, congenital contractural arachnodactyly MONDO:0007363
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Contractural arachnodactyly, congenital OMIM:121050, congenital contractural arachnodactyly MONDO:0007363
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital Contractural Arachnodactyly, Contractural arachnodactyly, congenital, 121050