Skeletal dysplasia
Gene: FGF16
polydactyly-syndactyly-triphalangism SD gp. At least 3 cases reported.; Review on behalf of Tracy LesterCreated: 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
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM. At least three variants reportedCreated: 28 Jul 2016, 11:38 a.m.
Tier 3Created: 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
Added phenotypes Metacarpal 4-5 fusion 309630 for gene: FGF16
Source NHS GMS was added to FGF16. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for FGF16 were set to Metacarpal 4-5 fusion 309630
Mode of inheritance for FGF16 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
FGF16 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
FGF16 was created by sleigh
FGF16 was added to Unexplained skeletal dysplasiapanel. Sources: