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  2. Familial non syndromic congenital heart disease
  3. IRX4
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Familial non syndromic congenital heart disease

Gene: IRX4

Red List (low evidence)
IRX4 (iroquois homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000113430
EnsemblGeneIds (GRCh37): ENSG00000113430
OMIM: 606199, Gene2Phenotype
IRX4 is in 1 panel

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Missense mutations identified in two patients with VSD
Created: 30 Nov 2016, 11:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ventricular septal defect

Publications

Created: 30 Nov 2016, 11:06 a.m.

Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Ventricular septal defect
OMIM
606199
Clinvar variants
Variants in IRX4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

30 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

30 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

IRX4 was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature

30 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

IRX4 was created by agardham