Skeletal dysplasia
Gene: INPPL1

INPPL1 (inositol polyphosphate phosphatase like 1)
EnsemblGeneIds (GRCh38): ENSG00000165458
EnsemblGeneIds (GRCh37): ENSG00000165458
OMIM: 600829, Gene2Phenotype
INPPL1 is in 4 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Severe spondylodysplastic dysplasias gp of SD >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Opsismodysplasia 258480

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

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

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: INPPL1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

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

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 29 Jul 2016, 10:02 a.m.

Comment on phenotypes: Opsismodysplasia 258480

Created: 29 Jul 2016, 10:01 a.m.

Created: 29 Jul 2016, 10:02 a.m.

Panel version: 0.1020

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

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

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Expert list
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Opsismodysplasia 258480

OMIM

600829

Clinvar variants

Variants in INPPL1

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Opsismodysplasia 258480 for gene: INPPL1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to INPPL1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4