Skeletal dysplasia

Gene: FBLN1

I don't know

polydactyly-syndactyly-triphalangism SD gp. Single case reported by Bohlega et al 2014; Review on behalf of Tracy Lester

Created: 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

• 24084572

I don't know

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: amber

Created: 6 Mar 2019, 11:36 a.m.

Comment on mode of inheritance: OMIM records as monoallelic, Gen2Phen as biallelic

Created: 5 Apr 2018, 2:38 p.m.

Comment on list classification: based on rating as a "possible" Gen2Phen association

Created: 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.

Green List (high evidence)

Tier 3

Created: 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