Clefting
Gene: MEIS2

MEIS2 (Meis homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000134138
EnsemblGeneIds (GRCh37): ENSG00000134138
OMIM: 601740, Gene2Phenotype
MEIS2 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment 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 clefting
Created: 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 clefting
Created: 8 Feb 2017, 6:38 p.m.

Created: 8 Feb 2017, 6:38 p.m.

Panel version: 0.172

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Orofacial clefting; cardiac defects; intellectual disability

Created: 8 Dec 2016, 10:08 a.m.

Panel version: 0.32

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Victorian Clinical Genetics Services
Expert Review Green

Phenotypes

Cleft palate, cardiac defects, and mental retardation, OMIM:600987
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970

OMIM

601740

Clinvar variants

Variants in MEIS2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

31 May 2017, Gel status: 4