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Hereditary ataxia with onset in adulthood v8.20 GRID2 Eleanor Williams Phenotypes for gene: GRID2 were changed from Progressive cerebellar ataxia, HP:0002073; Spinocerebellar ataxia, autosomal recessive 18, OMIM:616204 to Progressive cerebellar ataxia, HP:0002073; Spinocerebellar ataxia, autosomal recessive 18, OMIM:616204; autosomal recessive spinocerebellar ataxia 18, MONDO:0014530
Hereditary ataxia with onset in adulthood v8.19 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
Hereditary ataxia with onset in adulthood v8.18 GRID2 Ida Ertmanska changed review comment from: Comment on list classification: While most reported GRID2-related SCA cases show autosomal recessive inheritance, there are at least 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 in the scope of this panel. Hence, the mode of inheritance should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal for this panel.; to: Comment on list classification: While most reported GRID2-related SCA cases show autosomal recessive inheritance, there are at least 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 in the scope of this panel. Functional evidence in mouse models supports this mechanism of disease. Hence, the mode of inheritance should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal for this panel.
Hereditary ataxia with onset in adulthood v8.18 GRID2 Ida Ertmanska commented on gene: GRID2: Comment on list classification: While most reported GRID2-related SCA cases show autosomal recessive inheritance, there are at least 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 in the scope of this panel. Hence, the mode of inheritance should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal for this panel.
Hereditary ataxia with onset in adulthood v8.18 GRID2 Ida Ertmanska Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18, 616204 to Progressive cerebellar ataxia, HP:0002073; Spinocerebellar ataxia, autosomal recessive 18, OMIM:616204
Hereditary ataxia with onset in adulthood v8.17 GRID2 Ida Ertmanska Publications for gene: GRID2 were set to 25841024
Hereditary ataxia with onset in adulthood v8.16 GRID2 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: GRID2.
Hereditary ataxia with onset in adulthood v8.16 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, Spinocerebellar ataxia, autosomal recessive 18, OMIM:616204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.9 GRID2 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 for gene: GRID2
Hereditary ataxia with onset in adulthood v1.8 GRID2 Louise Daugherty reviewed gene: GRID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 GRID2 Tracy Lester reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18, 616204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 GRID2 Louise Daugherty Source NHS GMS was added to GRID2.
Hereditary ataxia with onset in adulthood v1.1 GRID2 Louise Daugherty Source Wessex and West Midlands GLH was added to GRID2.
Hereditary ataxia with onset in adulthood v0.61 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015. to Spinocerebellar ataxia, autosomal recessive 18, 616204
Hereditary ataxia with onset in adulthood v0.2 GRID2 Eleanor Williams gene: GRID2 was added
gene: GRID2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRID2 were set to 25841024
Phenotypes for gene: GRID2 were set to Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.