Primary lymphoedema
Gene: ALX3

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported. However, only one case of frontonasal dysplasia, neuronal migration error with lymphoedema of limbs reported (PMID 15127764).
Created: 1 Nov 2016, 4:15 p.m.

Comment on list classification: Phenotype not relevant to this panel
Created: 1 Nov 2016, 4:11 p.m.

Created: 1 Nov 2016, 4:11 p.m.

Panel version: 0.12

Pia Ostergaard (St George's)

Red List (low evidence)

Not in the lymphoedema clinic
Created: 1 Nov 2016, 3:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frontonasal dysplasia 1 136760

Created: 1 Nov 2016, 3:51 p.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Frontonasal dysplasia 1 136760

OMIM

606014

Clinvar variants

Variants in ALX3

Penetrance

Complete

Publications

15127764

Panels with this gene