Primary lymphoedema

Gene: ALX3

Red List (low evidence)

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.

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

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
Panels with this gene

History Filter Activity

2 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016

1 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

30 Sep 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

ALX3 was added to Lymphatic Disorderspanel. Source: UKGTN

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ALX3 was created by sleigh

30 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ALX3 was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen