Clefting
Gene: FLNBComment on list classification: changed status from Amber to Green- Clefting is noted in 3 or more unrelated cases for each of the associated disorders to FLNBCreated: 30 May 2017, 12:39 p.m.
Comment on list classification: Changed status from Red to Amber. There seems to be enough evidence that FLNB is involved in a number of syndromic disorders that include clefting and are collectively known as FLNB-Related Spectrum Disorders (PMID:20301736). Spondylocarpotarsal synostosis syndrome has more that 3 unrelated cases (14991055), Larsen syndrome has more than 3 unrelated cases (PMID:14991055,16801345), Atelosteogenesis, type I has 4 unrelated cases (PMID: 14991055, 24624349) and Atelosteogenesis, type III has 3 unrelated cases (PMID:14991055,27258362, 10076882).Created: 26 Jan 2017, 1:26 p.m.
Comment on mode of inheritance:
Spondylocarpotarsal synostosis syndrome, BIALLELIC, autosomal or pseudoautosomal;
Larsen syndrome, MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown;
Atelosteogenesis, type I, MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown.Created: 26 Jan 2017, 1:18 p.m.
Not a common cause of orofacial cleftingCreated: 8 Dec 2016, 10:45 a.m.
Phenotypes
Skeletal dysplasia with midline cleft palate
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for FLNB were set to 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
Phenotypes for FLNB were set to 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
FLNB was added to Cleftingpanel. Sources: Illumina TruGenome Clinical Sequencing Services
FLNB was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for FLNB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for FLNB were set to 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
This gene has been classified as Amber List (Moderate Evidence).
FLNB was created by oniblock
FLNB was added to Cleftingpanel. Sources: UKGTN