Skeletal dysplasia

Gene: FGF10

Green List (high evidence)

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 Lester

Created: 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

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: FGF10; Initial rating suggestion: green

Created: 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 180920

Created: 12 Jul 2016, 6:56 a.m.

Green List (high evidence)

Tier 3

Created: 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