Genomics England
GMS Panels
Panels
Genes and Entities

FBLN5

fibulin 5
OMIM: 604580
PanelMode of inheritanceDetails
4 panels
Green
in Ehlers Danlos syndromes
R-numbers: R101
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal dominant 2, 614434, Cutis laxa, autosomal recessive, type IA, 219100
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa 614434, Cutis laxa 219100
Green
in Hereditary neuropathy NOT PMP22 copy number
R-numbers: R78
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Green
in Thoracic aortic aneurysm and dissection
R-numbers: R125
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes