Skeletal dysplasia
Gene: FGF10
polydactyly-syndactyly-triphalangism SD gp. Several cases reported. ALSG is amilder allelic form - 180920. Do you report variants in this gene as part of your current diagnostic practice? YES - for LADD &ALSG; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LADD syndrome 149730
Variants in this GENE are reported as part of current diagnostic practice
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: FGF10; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. At least three variants reported in this phenotype.Created: 12 Jul 2016, 6:57 a.m.
Comment on phenotypes: Variants also reported in Aplasia of lacrimal and salivary glands 180920Created: 12 Jul 2016, 6:56 a.m.
Tier 3Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aplasia of lacrimal and salivary glands 180920; LADD syndrome 149730
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes LADD syndrome 149730 for gene: FGF10
Source NHS GMS was added to FGF10. 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 FGF10 were set to LADD syndrome 149730
Mode of inheritance for FGF10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
FGF10 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
FGF10 was added to Unexplained skeletal dysplasiapanel. Sources:
FGF10 was created by sleigh