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Hereditary ataxia with onset in adulthood v2.144 MAPK8IP3 Eleanor Williams Tag Q4_21_rating was removed from gene: MAPK8IP3.
Hereditary ataxia with onset in adulthood v2.144 MAPK8IP3 Sarah Leigh commented on gene: MAPK8IP3
Hereditary ataxia with onset in adulthood v2.143 MAPK8IP3 Eleanor Williams Source Expert Review Red was added to MAPK8IP3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v2.130 MAPK8IP3 Arina Puzriakova Classified gene: MAPK8IP3 as Green List (high evidence)
Hereditary ataxia with onset in adulthood v2.130 MAPK8IP3 Arina Puzriakova Added comment: 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.
Hereditary ataxia with onset in adulthood v2.130 MAPK8IP3 Arina Puzriakova Gene: mapk8ip3 has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v2.129 MAPK8IP3 Arina Puzriakova Publications for gene: MAPK8IP3 were updated from to 30612693; 30945334
Tag Q4_21_rating tag was added to MAPK8IP3.
Hereditary ataxia with onset in adulthood v2.128 MAPK8IP3 Arina Puzriakova 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
Hereditary ataxia with onset in adulthood v1.174 MAPK8IP3 Eleanor Williams commented on gene: MAPK8IP3
Hereditary ataxia with onset in adulthood v1.174 MAPK8IP3 Eleanor Williams 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
Hereditary ataxia with onset in adulthood v1.138 MAPK8IP3 Louise Daugherty Phenotypes for gene: MAPK8IP3 were changed from ID with variable brain anomalies to Intellectual Disability with variable brain anomalies
Hereditary ataxia with onset in adulthood v1.137 MAPK8IP3 Louise Daugherty Phenotypes for gene: MAPK8IP3 were changed from ID with variable brain anomalies, not included in to ID with variable brain anomalies
Hereditary ataxia with onset in adulthood v1.136 MAPK8IP3 Louise Daugherty Mode of inheritance for gene: MAPK8IP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.135 MAPK8IP3 Louise Daugherty Classified gene: MAPK8IP3 as Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.135 MAPK8IP3 Louise Daugherty Gene: mapk8ip3 has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.9 MAPK8IP3 Louise Daugherty Added phenotypes ID with variable brain anomalies, not included in for gene: MAPK8IP3
Hereditary ataxia with onset in adulthood v1.8 MAPK8IP3 Louise Daugherty reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 MAPK8IP3 Tracy Lester reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ID with variable brain anomalies, not included in ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.2 MAPK8IP3 Louise Daugherty Source NHS GMS was added to MAPK8IP3.
Hereditary ataxia with onset in adulthood v1.1 MAPK8IP3 Louise Daugherty 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