| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.67 | GRN | Bryony Thompson Marked gene: GRN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.67 | GRN | Bryony Thompson Gene: grn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.67 | GRN | Bryony Thompson Classified gene: GRN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.67 | GRN | Bryony Thompson Gene: grn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.66 | GRN |
Bryony Thompson gene: GRN was added gene: GRN was added to Ataxia. Sources: Literature Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRN were set to 39812704; 39394881; 31855245 Phenotypes for gene: GRN were set to neuronal ceroid lipofuscinosis 11, MONDO:0013866 Review for gene: GRN was set to GREEN Added comment: PMID 39812704 reports 1 individual from 1 family with a homozygous frameshift GRN variant presenting with cerebellar ataxia, cone‑rod dystrophy, seizures and cognitive decline. PMID 39394881 describes 9 individuals from 9 unrelated families, all with biallelic loss‑of‑function GRN variants and a core cerebellar ataxia phenotype; seven families share the recurrent frameshift c.768_769dup. PMID 31855245 adds 3 individuals from 2 families carrying distinct homozygous loss‑of‑function GRN variants (c.1A>T and c.709‑3C>G) with early‑onset ataxia, seizures and retinitis pigmentosa. In total these studies comprise 13 patients from 12 families, representing five independent biallelic loss‑of‑function GRN variant origins that cause neuronal ceroid lipofuscinosis 11 (CLN11) with cerebellar ataxia. Sources: Literature |
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