Clefting
Gene: MSX1Comment on list classification: Changed status from Red to Green due to expert reviewer, there is enough evidence in the literature to suggest this gene is involved in two syndromes that include clefting phenotype.Created: 27 Jan 2017, 10:32 a.m.
Comment on publications: Orofacial cleft 5- PMID:10742093 (1 family), PMID:12807959 (5 unrelated cases); PMID:27228008. Tooth agenesis, selective, 1, with or without orofacial cleft (PMID:10742093, 12097313; 16498076, 27228008;16498076;15264286;25565750)Created: 27 Jan 2017, 10:30 a.m.
Comment on mode of inheritance: added MOI from reviewerCreated: 26 Jan 2017, 4:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CLP with dental anomalies
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: MSX1 were changed from Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; CLP with dental anomalies; Cleft lip to Orofacial cleft 5, OMIM:608874; Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600
Victorian Clinical Genetics Services was added to MSX1. Panel: Clefting Phenotypes for gene MSX1 were set to Orofacial cleft 5, 608874, Tooth agenesis, selective, 1, with or without orofacial cleft, 106600, CLP with dental anomalies, Cleft lip
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Green List (High Evidence).
Publications for MSX1 were set to 10742093;12807959;27228008;12097313;16498076;15264286;25565750
Phenotypes for MSX1 were set to Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600;CLP with dental anomalies
Mode of inheritance for MSX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
MSX1 was created by oniblock
MSX1 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen