Skeletal dysplasia

Gene: LRP4

Green List (high evidence)

Other sclerosing bone disorders gp of SD, polydactyly-syndactyly-triphalangism SD gp. Several cases; Review on behalf of Tracy Lester

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

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cenani-Lenz syndactyly syndrome 212780; Sclerosteosis 2 614305

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: LRP4; Initial rating suggestion: green

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

Comment when marking as ready: Numerous variants reported in Cenani-Lenz syndactyly syndrome 212780, at least two variants reported in Sclerosteosis 2 614305

Created: 12 Jul 2016, 9:53 a.m.

Comment on phenotypes: Variants also reported in Myasthenic syndrome, congenital, 17 616304

Created: 12 Jul 2016, 9:52 a.m.

Green List (high evidence)

Tier 2

Created: 17 Jun 2016, 8:05 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Myasthenic syndrome, congenital, 17 616304; Cenani-Lenz syndactyly syndrome 212780; Sclerosteosis 2 614305

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