Ataxia and cerebellar anomalies - narrow panelGene: MORC2
Thr362Arg variant has been reported as a de novo event in early onset cerebellar ataxia in two different families. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green on the childhood panel during the call discussing MORC2 on R52 Hereditary ataxia - adult onset https://panelapp.genomicsengland.co.uk/panels/466/ (where is was decided to rate as Amber)
Sources: Expert list
Created: 1 Aug 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Axonal type CMT disease type 2Z, 616688
Gene: morc2 has been classified as Green List (High Evidence).
gene: MORC2 was added gene: MORC2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MORC2 were set to 28402445; 27794525 Phenotypes for gene: MORC2 were set to Axonal type CMT disease type 2Z, 616688 Review for gene: MORC2 was set to GREEN