FLNB

filamin B
OMIM: 603381, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red FLNB in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.10 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN
Green FLNB in Arthrogryposis Level 2: Neurology Version 9.32 Latest signed off version: v9.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list
Green FLNB in Skeletal dysplasia Level 2: Musculoskeletal Version 8.40 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Spondylocarpotarsal synostosis syndrome 272460 Atelosteogenesis, type III 108721 Boomerang dysplasia 112310 Atelosteogenesis, type I 108720 Larsen syndrome 150250
Green FLNB in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ATELOSTEOGENESIS TYPE 1 BOOMERANG DYSPLASIA SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME AUTOSOMAL DOMINANT LARSEN SYNDROME ATELOSTEOGENESIS TYPE 3
Red FLNB in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.4 Latest signed off version: v6.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Phenotypes spondylo-carpel-tarsel dysplasia Larsen syndrome (dominant) atelsteogenesis type 1/3
No list FLNB in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green FLNB in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL DOMINANT LARSEN SYNDROME 150250 ATELOSTEOGENESIS TYPE 3 108721 ATELOSTEOGENESIS TYPE 1 108720 BOOMERANG DYSPLASIA 112310 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460
Green FLNB in Clefting Level 2: Musculoskeletal Version 6.23 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN 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
Red FLNB in Intellectual disability Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondylocarpotarsal synostosis syndrome, 272460 Larsen syndrome, 150250 Atelosteogenesis, type I, 108720 Atelosteogenesis, type III, 108721 Boomerang dysplasia, 112310