Skeletal dysplasia
Gene: IMPAD1Added new-gene-name tag, new approved HGNC gene symbol for IMPAD1 is BPNT2Created: 10 May 2022, 3:11 p.m. | Last Modified: 10 May 2022, 3:11 p.m.
Panel Version: 2.206
In sulphation disorders group 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
Chondrodysplasia with joint dislocations, GPAPP type 614078
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: IMPAD1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:55 p.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chondrodysplasia with joint dislocations, GPAPP type 614078
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: IMPAD1.
Added phenotypes Chondrodysplasia with joint dislocations, GPAPP type 614078 for gene: IMPAD1
Source NHS GMS was added to IMPAD1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type 614078
Mode of inheritance for IMPAD1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
IMPAD1 was added to Unexplained skeletal dysplasiapanel. Sources:
IMPAD1 was created by sleigh