Severe microcephaly
Gene: GMNNEnsemblGeneIds (GRCh38): ENSG00000112312
EnsemblGeneIds (GRCh37): ENSG00000112312
OMIM: 602842, Gene2Phenotype
GMNN is in 5 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Alice Gardham (Genomics England)
Comment on mode of pathogenicity: Thought to be activating mutationsCreated: 11 Jan 2017, 4:26 p.m.
Mutation in 3 unrelated patients. Probable DD on G2PCreated: 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
-
- Meier-Gorlin syndrome 6, OMIM:616835
- Microcephalic 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GMNN were changed from MPD; microcephalic primordial dwarfism; Meier-Gorlin syndrome 6, 616835; MGORS6; primordial dwarfism to Meier-Gorlin syndrome 6, OMIM:616835; Microcephalic primordial dwarfism
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GMNN.
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.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for GMNN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for GMNN were set to 26637980
Set mode of pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for GMNN was changed to Other - please provide details in the comments
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
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
Added New Source
Rebecca Foulger (Genomics England curator)GMNN was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
Created
Rebecca Foulger (Genomics England curator)GMNN was created by rfoulger