Limb disorders
Gene: FGF9
No new evidence so keep as AmberCreated: 7 Nov 2018, 1:26 p.m.
Comment on mode of inheritance: Both cases to date report monoallelic inheritanceCreated: 9 Sep 2018, 10:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Multiple synostoses syndrome 3 612961
Publications
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
Comment on mode of inheritance: from publication PMID 19589401Created: 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 associationCreated: 10 Apr 2017, 12:52 p.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 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
Tier 2Created: 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
Ana Beleza: Tier 2
Gene: fgf9 has been classified as Amber List (Moderate Evidence).
Added phenotypes Multiple synostoses syndrome 3 612961 for gene: FGF9 Publications for gene FGF9 were changed from 19460469; 28169396; 19589401 to 19460469; 28730625; 28169396; 19589401
Mode of inheritance for gene: FGF9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for FGF9 were set to 19460469; 28169396; 19589401
This gene has been classified as Amber List (Moderate Evidence).
London South East RGC GSTT was added to FGF9. Panel: Limb disorders
FGF9 was added to Limb disorders panel. Sources: Viapath
FGF9 was created by Ellen McDonagh