Genomics England

FLNB

filamin B

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.1	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 4.15	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes ATELOSTEOGENESIS TYPE 1, BOOMERANG DYSPLASIA, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, AUTOSOMAL DOMINANT LARSEN SYNDROME, ATELOSTEOGENESIS TYPE 3
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 Spondylocarpotarsal synostosis syndrome 272460, Atelosteogenesis, type III 108721, Boomerang dysplasia 112310, Atelosteogenesis, type I 108720, Larsen syndrome 150250