Ectodermal dysplasia without a known gene mutation
Gene: MSX1Comment 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.
Ok to include for Witkop syndromeCreated: 19 Nov 2015, 3:06 p.m.
Phenotypes
Witkop syndrome
Phenotypes for gene: MSX1 were changed from Ectodermal dysplasia 3, Witkop type 189500 to Ectodermal dysplasia 3, Witkop type, OMIM:189500
Publications for MSX1 were set to 24031111; 11369996
Promoted to version 1 10th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for MSX1 were set to Ectodermal dysplasia 3, Witkop type 189500
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
Publications for MSX1 were set to 24031111
Publications for MSX1 were set to 24031111; 22813217; 26463473
Publications for MSX1 were set to 24031111; 22813217
Mode of inheritance for MSX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
MSX1 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: UKGTN
MSX1 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
MSX1 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen