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| Ataxia - adult onset v0.143 | PRPS1 |
Chern Lim edited their review of gene: PRPS1: Added comment: PMID: 25491489: Heterozygous missense variant, loss of function - PRS enzyme deficiency showed. Proband and her mother have various degrees of ataxia (examinations at 34yrs and 70yrs, respectively), peripheral neuropathy and hearing loss beyond the ophthalmological symptoms, whereas the phenotype of the affected older sister (36yo) is currently confined to the eye and milder.; Changed publications: 33898739, 28967191, 25491489 |
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| Ataxia - adult onset v0.143 | PRPS1 | Zornitza Stark Marked gene: PRPS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.143 | PRPS1 | Zornitza Stark Gene: prps1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.143 | PRPS1 | Zornitza Stark Publications for gene: PRPS1 were set to PMID: 33898739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.142 | PRPS1 | Zornitza Stark Classified gene: PRPS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.142 | PRPS1 | Zornitza Stark Gene: prps1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.141 | PRPS1 | Zornitza Stark reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, deafness, eye disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.141 | PRPS1 | Chern Lim edited their review of gene: PRPS1: Changed publications: PMID: 33898739, 28967191 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.141 | PRPS1 |
Chern Lim commented on gene: PRPS1: PMID: 28967191 in one of the families, heterozygous variants in proband with hearing loss and ataxia developed in the proband in her forties, and ocular manifestations of retinal changes and disc pallor were first confirmed in the two affected daughters in their twenties. |
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| Ataxia - adult onset v0.141 | PRPS1 |
Chern Lim gene: PRPS1 was added gene: PRPS1 was added to Ataxia - adult onset. Sources: Literature Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PRPS1 were set to PMID: 33898739 Phenotypes for gene: PRPS1 were set to Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy Review for gene: PRPS1 was set to AMBER gene: PRPS1 was marked as current diagnostic Added comment: PMID: 33898739: Heterozygous de novo missense variant in a 30yo female individual, presented with a 5-year history of progressive ataxia. She also had congenital strabismus, infantile-onset hearing loss, and a retinal dystrophy with progressive visual loss for the past 10 years. Sources: Literature |
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