Skeletal dysplasia
Gene: LONP1
spondylo-epi-(meta)-physeal dysplasias gp of SD >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373
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: LONP1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reportedCreated: 29 Jul 2016, 10:11 a.m.
Tier 2Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373 for gene: LONP1
Source NHS GMS was added to LONP1. 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 LONP1 were set to CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373
Mode of inheritance for LONP1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
LONP1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
LONP1 was added to Unexplained skeletal dysplasiapanel. Sources:
LONP1 was created by sleigh