Ataxia and cerebellar anomalies - narrow panelGene: MAPK8IP3
Comment on list classification: 18 individuals from 17 families reported with de novo variants in this gene (PMIDs: 30612693; 30945334) of which 3 subjects displayed cerebellar atrophy on brain MRI and 2 had ataxia. Onset in childhood. Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 29 Nov 2021, 12:06 p.m. | Last Modified: 29 Nov 2021, 12:06 p.m.
Panel Version: 2.278
Phenotype recently added to OMIM so updated.
Created: 27 Jun 2019, 3:12 p.m. | Last Modified: 27 Jun 2019, 3:12 p.m.
Panel Version: 1.174
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Multiple families/variants reported (de novo). Cerebellar atrophy/hypoplasia and/or ataxia reported in a number of cases
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
ID with variable brain anomalies, not included in
Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).
gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Wessex and West Midlands GLH,Expert Review Green,NHS GMS Q4_21_rating tags were added to gene: MAPK8IP3. Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAPK8IP3 were set to 30612693; 30945334 Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443