FLNB

PanelMode of inheritanceDetails
5 panels
R-numbers: R83
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Skeletal dysplasia with midline cleft palate, Orofacial Clefting with skeletal features, Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460, Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250, Atelosteogenesis, type I (includes clefting), MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 108720, Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (includes clefting), 108721
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
AUTOSOMAL DOMINANT LARSEN SYNDROME 150250, ATELOSTEOGENESIS TYPE 3 108721, ATELOSTEOGENESIS TYPE 1 108720, BOOMERANG DYSPLASIA 112310, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ATELOSTEOGENESIS TYPE 1, BOOMERANG DYSPLASIA, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, AUTOSOMAL DOMINANT LARSEN SYNDROME, ATELOSTEOGENESIS TYPE 3
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spondylocarpotarsal synostosis syndrome 272460, Atelosteogenesis, type III 108721, Boomerang dysplasia 112310, Atelosteogenesis, type I 108720, Larsen syndrome 150250