Skeletal dysplasia
Gene: LRP4
Other sclerosing bone disorders gp of SD, polydactyly-syndactyly-triphalangism SD gp. Several cases; Review on behalf of Tracy LesterCreated: 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
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: greenCreated: 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 614305Created: 12 Jul 2016, 9:53 a.m.
Comment on phenotypes: Variants also reported in Myasthenic syndrome, congenital, 17 616304Created: 12 Jul 2016, 9:52 a.m.
Tier 2Created: 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
Added phenotypes Sclerosteosis 2 614305; Cenani-Lenz syndactyly syndrome 212780 for gene: LRP4
Source NHS GMS was added to LRP4. 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 LRP4 were set to Cenani-Lenz syndactyly syndrome 212780; Sclerosteosis 2 614305
Mode of inheritance for LRP4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
LRP4 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
LRP4 was added to Unexplained skeletal dysplasiapanel. Source: Expert
LRP4 was added to Unexplained skeletal dysplasiapanel. Sources:
LRP4 was created by sleigh