Limb disorders

Gene: FBLN1

I don't know

No new evidence so keep as Amber

Created: 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

• 24084572
• 11836357

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 association

Created: 5 Apr 2018, 2:28 p.m.

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

Created: 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.

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