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Limb disorders

Gene: FGF16

Green List (high evidence)
FGF16 (fibroblast growth factor 16)
EnsemblGeneIds (GRCh38): ENSG00000196468
EnsemblGeneIds (GRCh37): ENSG00000196468
OMIM: 300827, Gene2Phenotype
FGF16 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM. At least three variants reported
Created: 28 Jul 2016, 11:38 a.m.
Created: 28 Jul 2016, 11:38 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.874

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Metacarpal 4-5 fusion 309630

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

Created: 17 Jun 2016, 8:03 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Metacarpal 4-5 fusion, 309630
OMIM
300827
Clinvar variants
Variants in FGF16
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 3

5 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FGF16 were set to Metacarpal 4-5 fusion, 309630

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to FGF16. Panel: Limb disorders UKGTN was added to FGF16. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to FGF16. Panel: Limb disorders Expert list was added to FGF16. Panel: Limb disorders Model of inheritance for gene FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to FGF16. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FGF16 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FGF16 was created by Ellen McDonagh