Polydactyly
Gene: ALX3

ALX3 (ALX homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000156150
EnsemblGeneIds (GRCh37): ENSG00000156150
OMIM: 606014, Gene2Phenotype
ALX3 is in 10 panels

2 reviews

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Jul 2020, 4:26 a.m.
Last Modified: 21 Jul 2020, 4:26 a.m.
Panel version: 0.36

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Polydactyly not specifically associated with FND1. One family reported in 8362915, but polydactyly considered to be a separate feature.
Created: 12 May 2020, 1:30 a.m. | Last Modified: 12 May 2020, 1:30 a.m.

Panel Version: 0.28

Intellectual disability is part of the phenotype.
Created: 23 Nov 2019, 7:20 a.m. | Last Modified: 23 Nov 2019, 7:20 a.m.

Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frontonasal dysplasia 1, MIM#136760

Publications

Created: 23 Nov 2019, 7:20 a.m.
Last Modified: 23 Nov 2019, 7:20 a.m.
Panel version: 0.28

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Genetic Health Queensland
Victorian Clinical Genetics Services

Phenotypes

Frontonasal dysplasia 1, MIM#136760

OMIM

606014

Clinvar variants

Variants in ALX3

Penetrance

None

Publications

19409524

Panels with this gene