Ectodermal dysplasia without a known gene mutation

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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ectodermal dysplasia 3, Witkop type 189500
OMIM
142983
Clinvar variants
Variants in MSX1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MSX1 were set to 24031111; 11369996

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MSX1 were set to Ectodermal dysplasia 3, Witkop type 189500

10 Aug 2016, Gel status: 2

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

10 Aug 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MSX1 were set to 24031111

10 Aug 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MSX1 were set to 24031111; 22813217; 26463473

10 Aug 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MSX1 were set to 24031111; 22813217

10 Aug 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for MSX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 Aug 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

MSX1 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: UKGTN

8 Oct 2015, Gel status: 1

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

8 Oct 2015, Gel status: 1

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