Skeletal dysplasia

Gene: CDH3

Green List (high evidence)

Listed in Ectrodactyly with and without other manifestations gp of SD. AR. Two cases reported on OMIM. Further case reported by Basel-Vanagaite et al 2010. Several cases reported with 601553 that have syndactyly.Gene also associated with hypotrichosis, congenital, with juvenile macular dystrophy 601553.; Review on behalf of Tracy Lester

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280

Publications

• 15805154
• 22140374

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: CDH3; 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: 11 Jul 2016, 12:48 p.m.

Comment on phenotypes: Variants also reported in Hypotrichosis, congenital, with juvenile macular dystrophy 601553, but not relevant for this panel

Created: 11 Jul 2016, 12:26 p.m.

Green List (high evidence)

Tier 3

Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280; Hypotrichosis, congenital, with juvenile macular dystrophy 601553

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