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| Ataxia and cerebellar anomalies - narrow panel v3.16 | TPR | Achchuthan Shanmugasundram edited their review of gene: TPR: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.16 | TPR |
Achchuthan Shanmugasundram gene: TPR was added gene: TPR was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPR were set to 34494102 Phenotypes for gene: TPR were set to Cerebellar ataxia, MONDO:0000437 Added comment: Comment on classification of this gene: This gene should be added with a RED rating as the association of TPR to ataxia is based on biallelic variants identified from a report of two siblings. Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution. This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | ITPR1 |
Ellen McDonagh Mode of pathogenicity for gene ITPR1 was changed from to Other - please provide details in the comments Added phenotypes Spinocerebellar ataxia 29; Spinocerebellar ataxia 15 for gene: ITPR1 |
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | ITPR1 |
Ellen McDonagh gene: ITPR1 was added gene: ITPR1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: ITPR1 were set to Gillespie syndrome 206700; Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive |
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