FLNB

filamin B
OMIM: 603381, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green FLNB in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.225	review	Unknown	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green FLNB in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green FLNB in Mendeliome Version 1.2302	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes spondylocarpotarsal synostosis syndrome MONDO:0010094 filamin-related bone disorder MONDO:0019690
Green FLNB in Short Long Bones with Advanced Carpal Bone Age Level 2: Skeletal disorders Version 0.1	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red FLNB in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Larsen syndrome, MIM#150250
Green FLNB in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Atelosteogenesis, type I 108720 Spondylocarpotarsal synostosis syndrome 272460 Larsen syndrome 150250 Boomerang dysplasia 112310 Atelosteogenesis, type III 108721
Green FLNB in Multiple joint dislocations and laxity Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.9	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services NHS GMS Expert Review Green Phenotypes Atelosteogenesis, type I 108720 Atelosteogenesis, type III 108721 Larsen syndrome 150250 Spondylocarpotarsal synostosis syndrome 272460 Boomerang dysplasia 112310
Green FLNB in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylocarpotarsal synostosis syndrome, 272460 (3)
Green FLNB in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Phenotypes Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460 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 Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250 Orofacial Clefting with skeletal features Skeletal dysplasia with midline cleft palate
Green FLNB in Fetal anomalies Version 1.313	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Larsen syndrome, MIM#150250 Atelosteogenesis, type I, MIM# 108720 Atelosteogenesis, type III, MIM# 108721 Boomerang dysplasia, MIM# 112310 Spondylocarpotarsal synostosis syndrome, MIM# 272460
Green FLNB in Prepair 1000+ Level 2: Screening Version 1.1566	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylocarpotarsal synostosis syndrome, 272460 (3)