Severe microcephaly

Gene: GMNN

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on mode of pathogenicity: Thought to be activating mutations
Created: 11 Jan 2017, 4:26 p.m.
Mutation in 3 unrelated patients. Probable DD on G2P
Created: 11 Jan 2017, 4:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Meier-Gorlin syndrome 6 616835

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Other
  • Expert list
Phenotypes
  • MPD
  • microcephalic primordial dwarfism
  • Meier-Gorlin syndrome 6, 616835
  • MGORS6
  • primordial dwarfism
OMIM
602842
Clinvar variants
Variants in GMNN
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GMNN.

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

27 Feb 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for GMNN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

11 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for GMNN were set to 26637980

11 Jan 2017, Gel status: 4

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for GMNN was changed to Other - please provide details in the comments

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

13 Dec 2016, Gel status: 0

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

GMNN was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

GMNN was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

GMNN was created by rfoulger