Clefting
Gene: GMNN

GMNN (geminin, DNA replication inhibitor)
EnsemblGeneIds (GRCh38): ENSG00000112312
EnsemblGeneIds (GRCh37): ENSG00000112312
OMIM: 602842, Gene2Phenotype
GMNN is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed to red - one case mentions clefting and this is not sufficient. The gene is Green on the Primary Microcephaly - Microcephalic Dwarfism Spectrum V1.6 gene panel

Created: 30 May 2017, 3:54 p.m.

Comment on list classification: Three unrelated cases for the disorder, but only one case where cleft lip is mentioned
Created: 30 May 2017, 3:50 p.m.

Comment on publications: added PMID: 26637980 as evidence for MOI.
Created: 30 May 2017, 3:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Meier-Gorlin syndrome 6, 616835

Publications

26637980

Created: 30 May 2017, 3:45 p.m.

Panel version: 0.263

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Meier-Gorlin syndrome 6, OMIM:616835

OMIM

602842

Clinvar variants

Variants in GMNN

Penetrance

Complete

Publications

26637980

Panels with this gene

History Filter Activity

26 Apr 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GMNN were changed from Meier-Gorlin syndrome 6, 616835 to Meier-Gorlin syndrome 6, OMIM:616835

31 May 2017, Gel status: 1