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Skeletal dysplasia

Gene: IMPAD1

Green List (high evidence)
IMPAD1 (inositol monophosphatase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000104331
EnsemblGeneIds (GRCh37): ENSG00000104331
OMIM: 614010, Gene2Phenotype
IMPAD1 is in 6 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for IMPAD1 is BPNT2
Created: 10 May 2022, 3:11 p.m. | Last Modified: 10 May 2022, 3:11 p.m.
Panel Version: 2.206
Created: 10 May 2022, 3:11 p.m.
Last Modified: 10 May 2022, 3:11 p.m.
Panel version: 2.206

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

In sulphation disorders group 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
Chondrodysplasia with joint dislocations, GPAPP type 614078

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: IMPAD1; 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 on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 12:55 p.m.
Created: 21 Jun 2016, 12:55 p.m.

Panel version: 0.46

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
Chondrodysplasia with joint dislocations, GPAPP type 614078

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
Phenotypes
  • Chondrodysplasia with joint dislocations, GPAPP type 614078
Tags
new-gene-name
OMIM
614010
Clinvar variants
Variants in IMPAD1
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: IMPAD1.

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Chondrodysplasia with joint dislocations, GPAPP type 614078 for gene: IMPAD1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to IMPAD1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

8 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type 614078

7 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for IMPAD1 was changed to BIALLELIC, autosomal or pseudoautosomal

21 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

IMPAD1 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

IMPAD1 was created by sleigh