Skeletal dysplasia
Gene: INPPL1
Severe spondylodysplastic 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
Opsismodysplasia 258480
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: INPPL1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 29 Jul 2016, 10:02 a.m.
Comment on phenotypes: Opsismodysplasia 258480
Created: 29 Jul 2016, 10:01 a.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Opsismodysplasia 258480
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Opsismodysplasia 258480 for gene: INPPL1
Source NHS GMS was added to INPPL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for INPPL1 were set to Opsismodysplasia 258480
This gene has been classified as Green List (High Evidence).
Phenotypes for INPPL1 were set to OPSMD
Mode of inheritance for INPPL1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
INPPL1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
INPPL1 was added to Unexplained skeletal dysplasiapanel. Sources:
INPPL1 was created by sleigh