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Intellectual disability

Gene: GMNN

Amber List (moderate evidence)

GMNN (geminin, DNA replication inhibitor)
EnsemblGeneIds (GRCh38): ENSG00000112312
EnsemblGeneIds (GRCh37): ENSG00000112312
OMIM: 602842, Gene2Phenotype
GMNN is in 6 panels

1 review

Catherine Snow (Genomics England)

Comment on list classification: Gene identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes. PMID:26637980 describes 3 affected members from 3 non consanguineous families, 2/3 have ID, no information was supplied for patient 3 for ID but the patient did not have speech or motor delay.
GMNN is in OMIM with clinically relevant phenotype. It is probable in Gene2Phenotype but ID is not listed as a phenotype.
Therefore adding GMNN to ID panel as Amber as insufficient cases to be sure.
Created: 21 May 2019, 10:10 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Meier-Gorlin syndrome 6, 616835
Tags
watchlist
OMIM
602842
Clinvar variants
Variants in GMNN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag watchlist tag was added to gene: GMNN.

25 Jul 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene GMNN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Catherine Snow (Genomics England)

gene: GMNN was added gene: GMNN was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: GMNN was set to Publications for gene: GMNN were set to 26637980; 30914295 Phenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, 616835