Clefting
Gene: MSX1

MSX1 (msh homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000163132
EnsemblGeneIds (GRCh37): ENSG00000163132
OMIM: 142983, Gene2Phenotype
MSX1 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment 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 reviewer
Created: 26 Jan 2017, 4:16 p.m.

Created: 26 Jan 2017, 4:16 p.m.

Panel version: 0.136

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

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

Created: 8 Dec 2016, 9:43 a.m.

Panel version: 0.31

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Orofacial cleft 5, OMIM:608874
Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600

OMIM

142983

Clinvar variants

Variants in MSX1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

14 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

31 May 2017, Gel status: 4