Skeletal dysplasia
Gene: FBLN1
polydactyly-syndactyly-triphalangism SD gp. Single case reported by Bohlega et al 2014; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FBLN1; Initial rating suggestion: amberCreated: 6 Mar 2019, 11:36 a.m.
Comment on mode of inheritance: OMIM records as monoallelic, Gen2Phen as biallelicCreated: 5 Apr 2018, 2:38 p.m.
Comment on list classification: based on rating as a "possible" Gen2Phen associationCreated: 5 Apr 2018, 2:37 p.m.
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, 2:36 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
Added phenotypes Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 for gene: FBLN1 Publications for gene FBLN1 were changed from to 24084572
Source NHS GMS was added to FBLN1.
Mode of inheritance for FBLN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
Promoted to version 1 9th August 2016
Mode of inheritance for FBLN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
Phenotypes for FBLN1 were set to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
This gene has been classified as Red List (Low Evidence).
FBLN1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
FBLN1 was added to Unexplained skeletal dysplasiapanel. Sources:
FBLN1 was created by sleigh