Clefting
Gene: ALX3

ALX3 (ALX homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000156150
EnsemblGeneIds (GRCh37): ENSG00000156150
OMIM: 606014, Gene2Phenotype
ALX3 is in 9 panels

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

Frontorhiny can include clefting features - median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi. PMID 19409524 - two indivduals within family 1 with a cleft palete. Is green on the Unexplained skeletal dysplasia Version 1.35 gene panel.
Created: 31 May 2017, 1:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FRONTONASAL DYSPLASIA 1; FND1; Frontorhiny

Publications

Created: 31 May 2017, 1:52 p.m.

Panel version: 0.307

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

FRONTONASAL DYSPLASIA 1
FND1
Frontorhiny

OMIM

606014

Clinvar variants

Variants in ALX3

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 2

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ALX3 was added to Cleftingpanel. Sources: Expert Review Amber

31 May 2017, Gel status: 0

Created