FBLN5

PanelMode of inheritanceDetails
4 panels
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
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Cutis laxa, autosomal dominant 2, OMIM:614434, Cutis laxa, autosomal recessive, type IA, OMIM:219100
R-numbers: R78
Signed-off version 4.11
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
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