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  2. Congenital Heart Defect
  3. IRX4
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Congenital Heart Defect

Gene: IRX4

Red List (low evidence)
IRX4 (iroquois homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000113430
EnsemblGeneIds (GRCh37): ENSG00000113430
OMIM: 606199, Gene2Phenotype
IRX4 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two individuals with novel missense variants identified in a large cohort in 2011.
Sources: Expert list
Created: 11 Jan 2020, 6:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ventricular septal defect

Publications

Created: 11 Jan 2020, 6:41 a.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Ventricular septal defect
OMIM
606199
Clinvar variants
Variants in IRX4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: irx4 has been classified as Red List (Low Evidence).

11 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IRX4 was added gene: IRX4 was added to Congenital Heart Defect_VCGS. Sources: Expert list Mode of inheritance for gene: IRX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRX4 were set to 21544582 Phenotypes for gene: IRX4 were set to Ventricular septal defect Review for gene: IRX4 was set to RED