Limb disorders

Gene: FGF9

I don't know

No new evidence so keep as Amber

Created: 7 Nov 2018, 1:26 p.m.

Comment on mode of inheritance: Both cases to date report monoallelic inheritance

Created: 9 Sep 2018, 10:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Multiple synostoses syndrome 3 612961

Publications

• 19460469
• 28169396
• 19589401
• 28730625

I don't know

Variants in this gene appear to impact joint development, which impacts limb development. There is some evidence in the literature, including the previously mentioned paper (PMID: 19589401) with a single variant in a 5-generation Chinese family. Case study describing an affected proband, his unaffected mother and father with suggestive features has also been noted (PMID: 28730625), with phenotypes including syndactyly, dolichocephaly and sagittal suture synostosis. Animal models are available for this knockout (PMID: 28169396)

Created: 5 Apr 2018, 1:43 p.m.

Publications

• 19460469
• 28169396
• 19589401

Red List (low evidence)

Comment on mode of inheritance: from publication PMID 19589401

Created: 10 Apr 2017, 12:56 p.m.

Single variant c.296G>A p.(Ser99 Asn) reported in 12 affected members of a 5-generation Chinese family with autosomal dominant multiple synostoses syndrome. Supporting functional data provided.
Probable G2P association

Created: 10 Apr 2017, 12:52 p.m.

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs

Created: 27 Jul 2016, 9:35 a.m.

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)

Created: 21 Jun 2016, 12:48 p.m.

Publications

• 19589401

Green List (high evidence)

Tier 2

Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
Unknown

Phenotypes
Multiple synostoses syndrome 3 612961

Variants in this GENE are reported as part of current diagnostic practice