Clefting
Gene: MEIS2Comment on list classification: Changed status from Amber to Green as there is enough evidence to support the associated phenotype of clefting.Created: 9 Feb 2017, 4:51 p.m.
Comment on list classification: Changed status to Amber - there two cases that confirm the phenotype of Orofacial clefting, cardiac defects, intellectual disability (PMID:25712757 and 27225850) and one more that supports clefting and learning disability (PMID:24678003).Created: 8 Feb 2017, 6:48 p.m.
Comment on publications: added 24678003 to support more than three cases for cleftingCreated: 8 Feb 2017, 6:45 p.m.
Comment on publications: Added publications for evidence, currently the variant referenced in OMIM is from a single case PMID: 25712757 which is currently classified as VUS due to the unconfirmed contribution to a neurodevelopmental disorder with multiple congenital malformations, however a more recent paper PMID: 27225850 (Oct 2016) reports another patient and confirms the core features which include cleftingCreated: 8 Feb 2017, 6:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Orofacial clefting; cardiac defects; intellectual disability
Phenotypes for gene: MEIS2 were changed from Orofacial clefting; cardiac defects; intellectual disability; Cleft palate to Cleft palate, cardiac defects, and mental retardation, OMIM:600987; Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970
Victorian Clinical Genetics Services was added to MEIS2. Panel: Clefting Phenotypes for gene MEIS2 were set to Orofacial clefting, cardiac defects, intellectual disability, Cleft palate
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 MEIS2 were set to 25712757; 27225850; 24678003
This gene has been classified as Amber List (Moderate Evidence).
Publications for MEIS2 were set to 25712757; 27225850
Publications for MEIS2 were set to 25712757
MEIS2 was created by Ushak
MEIS2 was added to Cleftingpanel. Sources: Expert Review