Fetal anomalies
Gene: ALX4

ALX4 (ALX homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000052850
EnsemblGeneIds (GRCh37): ENSG00000052850
OMIM: 605420, Gene2Phenotype
ALX4 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for FRONTONASAL DYSPLASIA 2 and Confirmed for PARIETAL FORAMINA 2.
Created: 11 Dec 2018, 9:04 a.m.

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.134

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

FRONTONASAL DYSPLASIA 2
PARIETAL FORAMINA 2

OMIM

605420

Clinvar variants

Variants in ALX4

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes PARIETAL FORAMINA 2 for gene: ALX4

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ALX4 was added gene: ALX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALX4 were set to FRONTONASAL DYSPLASIA 2

Fetal anomalies Gene: ALX4