| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.42 | CEP104 | Bryony Thompson Marked gene: CEP104 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.42 | CEP104 | Bryony Thompson Gene: cep104 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.42 | CEP104 | Bryony Thompson Classified gene: CEP104 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.42 | CEP104 | Bryony Thompson Gene: cep104 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.41 | CEP104 |
Bryony Thompson gene: CEP104 was added gene: CEP104 was added to Ataxia. Sources: Literature Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP104 were set to 41965849; 35359234; 31625690; 26477546 Phenotypes for gene: CEP104 were set to Joubert syndrome 25, MONDO:0014770; ciliopathy, MONDO:0005308 Review for gene: CEP104 was set to GREEN Added comment: CEP104 encodes a centrosomal tip protein involved in ciliary assembly. Biallelic loss‑of‑function variants in CEP104 are linked to two distinct phenotypes that feature ataxia, fitting the Ataxia panel’s scope. Luo2019, PMID 26477546 and PMID 41965849 together report five unrelated families (five probands) with Joubert syndrome, a ciliopathy characterised by cerebellar vermis hypoplasia, molar tooth sign, developmental delay, hypotonia and ataxia, caused by compound heterozygous or homozygous loss‑of‑function CEP104 variants. Badv2022 describes a consanguineous family with a homozygous nonsense CEP104 variant in a child presenting with mild intellectual disability, hypotonia and gait ataxia but normal brain MRI, representing a distinct neurodevelopmental disorder. Sources: Literature |
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