Severe microcephaly
Gene: GMNN
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
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
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
Source NHS GMS was added to GMNN.
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.
Mode of inheritance for GMNN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Publications for GMNN were set to 26637980
Mode of pathogenicity for GMNN was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
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
GMNN was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
GMNN was created by rfoulger