Craniosynostosis

Gene: IRX5

Red List (low evidence)

IRX5 (iroquois homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000176842
EnsemblGeneIds (GRCh37): ENSG00000176842
OMIM: 606195, Gene2Phenotype
IRX5 is in 5 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Bonnard et al 2012 report 2 families. In one family all 3 affecteds had CSS. Second case, and 2 brothers reported by Hamamy et al 2007, have brachycephaly. Knockdown in Xenopus embryos showed defective cranial NCC migration in first branchial arch. ; 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
Hamamy syndrome

Publications

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: IRX5; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Very rare; frequency of associated craniosynostosis uncertain. Mutations affect homeodomain
Created: 15 Sep 2015, 8:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hamamy syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Hamamy syndrome
OMIM
606195
Clinvar variants
Variants in IRX5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to IRX5.

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

15 Sep 2015, Gel status: 0

Added New Source

Andrew Wilkie (University of Oxford)

IRX5 was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review