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  3. IRX5
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Craniosynostosis

Gene: IRX5

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families now reported. At least three individuals with craniosynostosis as a feature of this condition.
Created: 7 Mar 2022, 11:24 p.m. | Last Modified: 7 Mar 2022, 11:24 p.m.
Panel Version: 1.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hamamy syndrome, MIM# 611174

Publications

Created: 7 Mar 2022, 11:24 p.m.
Last Modified: 7 Mar 2022, 11:24 p.m.
Panel version: 1.33

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single consanguineous family reported with craniosynostosis as a feature of the condition.
Sources: Literature
Created: 17 Sep 2020, 7:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hamamy syndrome MIM#611174

Publications

Created: 17 Sep 2020, 7:53 a.m.

Panel version: 0.141

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hamamy syndrome MIM#611174
OMIM
606195
Clinvar variants
Variants in IRX5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IRX5 were set to 22581230

7 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: irx5 has been classified as Green List (High Evidence).

17 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: irx5 has been classified as Red List (Low Evidence).

17 Sep 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: IRX5 was added gene: IRX5 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IRX5 were set to 22581230 Phenotypes for gene: IRX5 were set to Hamamy syndrome MIM#611174 Review for gene: IRX5 was set to RED