Hereditary ataxia with onset in adulthood
Gene: MAPK8IP3The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
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. However, this is a childhood onset condition and literature search did not reveal any evidence of adult onset ataxia associated with this gene. Therefore, MAPK8IP3 should be downgraded from Green here and added to the childhood cerebellar anomalies panel.Created: 29 Nov 2021, 12:03 p.m. | Last Modified: 29 Nov 2021, 12:03 p.m.
Panel Version: 2.130
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 casesCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ID with variable brain anomalies, not included in
Tag Q4_21_rating was removed from gene: MAPK8IP3.
Source Expert Review Red was added to MAPK8IP3. Rating Changed from Green List (high evidence) to Red List (low evidence)
Gene: mapk8ip3 has been classified as Green List (High Evidence).
Publications for gene: MAPK8IP3 were updated from to 30612693; 30945334 Tag Q4_21_rating tag was added to MAPK8IP3.
Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities, 618443 to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies to Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities, 618443
Phenotypes for gene: MAPK8IP3 were changed from ID with variable brain anomalies to Intellectual Disability with variable brain anomalies
Phenotypes for gene: MAPK8IP3 were changed from ID with variable brain anomalies, not included in to ID with variable brain anomalies
Mode of inheritance for gene: MAPK8IP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: mapk8ip3 has been classified as Green List (High Evidence).
Added phenotypes ID with variable brain anomalies, not included in for gene: MAPK8IP3
Source NHS GMS was added to MAPK8IP3.
gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MAPK8IP3 was set to