Ectodermal dysplasia

Gene: MSX1

Green List (high evidence)

MSX1 (msh homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000163132
EnsemblGeneIds (GRCh37): ENSG00000163132
OMIM: 142983, Gene2Phenotype
MSX1 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Two variants reported in Ectodermal dysplasia 3, Witkop type 189500. Msx1-null mice exhibit tooth agenesis and defective nail plates (PMID 11369996)
Created: 15 Aug 2016, 7:02 a.m.
Comment on phenotypes: Variants also reported in Orofacial cleft 5 608874 and Tooth agenesis, selective, 1, with or without orofacial cleft 106600
Created: 10 Aug 2016, 10:20 a.m.
Comment on mode of inheritance: PMID 24031111 reports biallelic inheritance
Created: 10 Aug 2016, 9:49 a.m.

John McGrath (King's College London)

Green List (high evidence)

Ok to include for Witkop syndrome
Created: 19 Nov 2015, 3:06 p.m.

Phenotypes
Witkop syndrome

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 3, Witkop type 189500
OMIM
142983
Clinvar variants
Variants in MSX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MSX1 was added gene: MSX1 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: MSX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MSX1 were set to 24031111; 11369996 Phenotypes for gene: MSX1 were set to Ectodermal dysplasia 3, Witkop type 189500