Craniosynostosis

Gene: IMPAD1

Red List (low evidence)

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

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

One of 4 cases reported by Vissers et al 2011 had coronal CSS. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chondrodysplasia with joint dislocations, GPAPP type

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; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Details

Sources
  • NHS GMS
Phenotypes
  • Chondrodysplasia with joint dislocations, GPAPP type
OMIM
614010
Clinvar variants
Variants in IMPAD1
Penetrance
None
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: IMPAD1 was added gene: IMPAD1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: IMPAD1 was set to