Ectodermal dysplasia without a known gene mutation
Gene: MSX1EnsemblGeneIds (GRCh38): ENSG00000163132
EnsemblGeneIds (GRCh37): ENSG00000163132
OMIM: 142983, Gene2Phenotype
MSX1 is in 6 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 106600Created: 10 Aug 2016, 10:20 a.m.
Comment on mode of inheritance: PMID 24031111 reports biallelic inheritanceCreated: 10 Aug 2016, 9:49 a.m.
John McGrath (King's College London)
Ok to include for Witkop syndromeCreated: 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
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ectodermal dysplasia 3, Witkop type, OMIM:189500
- OMIM
- 142983
- Clinvar variants
- Variants in MSX1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MSX1 were changed from Ectodermal dysplasia 3, Witkop type 189500 to Ectodermal dysplasia 3, Witkop type, OMIM:189500
Set publications
Sarah Leigh (Genomics England Curator)Publications for MSX1 were set to 24031111; 11369996
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 10th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MSX1 were set to Ectodermal dysplasia 3, Witkop type 189500
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MSX1 were set to Ectodermal dysplasia 3, Witkop type, 189500; Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874; Ectodermal dysplasia 3, Witkop type, 189500
Set publications
Sarah Leigh (Genomics England Curator)Publications for MSX1 were set to 24031111
Set publications
Sarah Leigh (Genomics England Curator)Publications for MSX1 were set to 24031111; 22813217; 26463473
Set publications
Sarah Leigh (Genomics England Curator)Publications for MSX1 were set to 24031111; 22813217
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for MSX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)MSX1 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)MSX1 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)MSX1 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen