Skeletal dysplasia
Gene: FGF16

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

polydactyly-syndactyly-triphalangism SD gp. At least 3 cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

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

Phenotypes
Metacarpal 4-5 fusion 309630

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

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: FGF16; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

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

Panel version: 1.146

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: 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: 0.4

Details

Mode of Inheritance

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

Sources

NHS GMS
Expert Review Green
UKGTN
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Metacarpal 4-5 fusion 309630
Metacarpal 4-5 fusion 309630

OMIM

300827

Clinvar variants

Variants in FGF16

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Metacarpal 4-5 fusion 309630 for gene: FGF16

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FGF16. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4