Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Ataxia and cerebellar anomalies - narrow panel v8.51 GRID2 Eleanor Williams Publications for gene: GRID2 were set to 9285588; 21460832; 25841024; 35882834; 37944084
Ataxia and cerebellar anomalies - narrow panel v8.50 GRID2 Eleanor Williams edited their review of gene: GRID2: Changed publications to: 23611888, 24078737
Ataxia and cerebellar anomalies - narrow panel v8.50 GRID2 Eleanor Williams commented on gene: GRID2
Ataxia and cerebellar anomalies - narrow panel v8.50 GRID2 Eleanor Williams Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18, 616204 to Spinocerebellar ataxia, autosomal recessive 18, 616204; Progressive cerebellar ataxia, HP:0002073; autosomal recessive spinocerebellar ataxia 18, MONDO:0014530
Ataxia and cerebellar anomalies - narrow panel v8.49 GRID2 Eleanor Williams Mode of pathogenicity for gene: GRID2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v8.48 GRID2 Eleanor Williams Publications for gene: GRID2 were set to 25841024
Ataxia and cerebellar anomalies - narrow panel v8.46 GRID2 Ida Ertmanska edited their review of gene: GRID2: Added comment: Comment on list classification: While most reported GRID2-related SCA cases show autosomal recessive inheritance, there are 3 unrelated pedigrees described with missense variants in GRID2 M3S2 pore domain, causing dominant / semidominant cerebellar ataxia. One childhood onset case was reported, with a homozygous missense variant in the M3 domain. The heterozygous individuals had first ataxia symptoms in adulthood, which is not in the scope of this panel. Hence, GRID2 should remain Green with a BIALLELIC mode of inheritance, until more evidence emerges.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v8.46 GRID2 Ida Ertmanska reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 9285588, 21460832, 25841024, 35882834, 37944084; Phenotypes: Progressive cerebellar ataxia, HP:0002073; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.57 GRID2 Louise Daugherty Publications for gene: GRID2 were set to PMID: 25841024
Ataxia and cerebellar anomalies - narrow panel v0.56 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.; Autosomal recessive spinocerebellar ataxia 18 (#616204) to Spinocerebellar ataxia, autosomal recessive 18, 616204
Ataxia and cerebellar anomalies - narrow panel v0.5 GRID2 Ellen McDonagh gene: GRID2 was added
gene: GRID2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRID2 were set to PMID: 25841024
Phenotypes for gene: GRID2 were set to Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.; Autosomal recessive spinocerebellar ataxia 18 (#616204)