| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.189 | PRDM13 | Bryony Thompson Classified gene: PRDM13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.189 | PRDM13 | Bryony Thompson Gene: prdm13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.188 | PRDM13 |
Bryony Thompson gene: PRDM13 was added gene: PRDM13 was added to Ataxia. Sources: Literature Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM13 were set to 34730112 Phenotypes for gene: PRDM13 were set to cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MONDO:0859229; pontocerebellar hypoplasia, IIA 17, MONDO:0030890 Review for gene: PRDM13 was set to AMBER Added comment: Whittaker2021 describes two Maltese families (one independent due to a shared founder deletion) harbouring a homozygous splice‑site deletion in PRDM13 with cerebellar hypoplasia, ataxia, congenital hypogonadotropic hypogonadism, intellectual disability and scoliosis. Sources: Literature |
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