Genomics England
GMS Panels
Panels
Genes and Entities

FBLN5

fibulin 5
OMIM: 604580
PanelMode of inheritanceDetails
4 panels
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Cutis laxa, autosomal dominant 2, OMIM:614434, Cutis laxa, autosomal recessive, type IA, OMIM:219100
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Cutis laxa, autosomal dominant 2, OMIM:614434, Cutis laxa, autosomal recessive, type IA, OMIM:219100
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, demyelinating, type 1H, OMIM:619764, Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Cutis laxa, autosomal dominant 2, OMIM:614434, Cutis laxa, autosomal recessive, type IA, OMIM:219100