Limb disorders
Gene: FBLN1
No new evidence so keep as AmberCreated: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180; SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
Publications
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant reported (this is classified as VUS because lack of evidence for disease association). In addition a translocation, t(12;22), reported in a complex type of synpolydactyly was shown to involve FBLN1 (PMID 11836357).Created: 5 Apr 2018, 2:34 p.m.
Comment on list classification: based on rating as a "possible" Gen2Phen associationCreated: 5 Apr 2018, 2:28 p.m.
Comment on mode of inheritance: OMIM records as monoallelic, Gen2Phen as biallelicCreated: 5 Apr 2018, 2:27 p.m.
Comment when marking as ready: Associated with phenotype in G2P. Only one variant of unknown significance reported in this phenotype.Created: 11 Jul 2016, 2:12 p.m.
Tier 3Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 3
Gene: fbln1 has been classified as Amber List (Moderate Evidence).
Added phenotypes Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180; SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES for gene: FBLN1 Publications for gene FBLN1 were changed from 24084572; 11836357 to 11836357; 24084572
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for FBLN1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for FBLN1 were set to 24084572; 11836357
Publications for FBLN1 were set to 24084572
London South East RGC GSTT was added to FBLN1. Panel: Limb disorders
FBLN1 was added to Limb disorders panel. Sources: Viapath
FBLN1 was created by Ellen McDonagh