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Hereditary ataxia with onset in adulthood v8.30 GDAP2 Ida Ertmanska Tag gene-checked was removed from gene: GDAP2.
Hereditary ataxia with onset in adulthood v8.30 GDAP2 Ida Ertmanska Tag gene-checked tag was added to gene: GDAP2.
Hereditary ataxia with onset in adulthood v8.26 GDAP2 Arina Puzriakova Tag Q4_24_NHS_review was removed from gene: GDAP2.
Tag Q4_24_promote_green was removed from gene: GDAP2.
Hereditary ataxia with onset in adulthood v8.25 GDAP2 Achchuthan Shanmugasundram reviewed gene: GDAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v8.24 GDAP2 Arina Puzriakova Source Expert Review Green was added to GDAP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v7.6 GDAP2 Sarah Leigh Tag Q4_24_NHS_review tag was added to gene: GDAP2.
Tag Q4_24_promote_green tag was added to gene: GDAP2.
Hereditary ataxia with onset in adulthood v7.6 GDAP2 Sarah Leigh changed review comment from: Biallelic GDAP2 variants have been associated with Spinocerebellar ataxia, autosomal recessive 27 (OMIM:618369), but this gene has not been associated with a phenotype in G2P. At least seven variants have been reported in at least six unrelated cases of OMIM:618369 (PMID: 30084953;32437512;32428220;37070050;38587696).; to: Biallelic GDAP2 variants have been associated with Spinocerebellar ataxia, autosomal recessive 27 (OMIM:618369), but this gene has not been associated with a phenotype in G2P. At least seven variants have been reported in at least six unrelated cases of OMIM:618369 (PMID: 30084953;32437512;32428220;37070050;38587696). The Gdap2 knockdown of Drosophila model resulted in shortened lifespan and motor anomalies that resembled the human phenotype (PMID: 30084953). In vitro expression levels of variants: p.Gln316*, p.His400fs*15 and p.Ser436fs*3 transcripts were reduced in comparison to wild type, resulting in barely detectable levels of variant protein. The transcripts of the remaining variants (p.Thr442fs*7 and
p.Arg253*) tested resulted in truncated proteins (PMID: 32437512).
Hereditary ataxia with onset in adulthood v7.6 GDAP2 Sarah Leigh reviewed gene: GDAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia with onset in adulthood v7.6 GDAP2 Sarah Leigh Phenotypes for gene: GDAP2 were changed from Autosomal recessive spinocerebellar ataxia to Spinocerebellar ataxia, autosomal recessive 27, OMIM:618369; spinocerebellar ataxia, autosomal recessive 27, MONDO:0032706
Hereditary ataxia with onset in adulthood v7.5 GDAP2 Sarah Leigh Publications for gene: GDAP2 were set to 30084953; 32437512; 32428220; 37070050
Hereditary ataxia with onset in adulthood v7.4 GDAP2 Sarah Leigh Publications for gene: GDAP2 were set to 30084953; 32437512
Hereditary ataxia with onset in adulthood v7.3 GDAP2 Sarah Leigh Publications for gene: GDAP2 were set to
Hereditary ataxia with onset in adulthood v1.188 GDAP2 Louise Daugherty commented on gene: GDAP2: Downgraded rating from Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.187 GDAP2 Louise Daugherty Source Expert Review Amber was added to GDAP2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.20 GDAP2 Louise Daugherty Phenotypes for gene: GDAP2 were changed from Autosomal recessive spinocerebellar ataxia, not listed in to Autosomal recessive spinocerebellar ataxia
Hereditary ataxia with onset in adulthood v1.19 GDAP2 Louise Daugherty Mode of inheritance for gene: GDAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.18 GDAP2 Louise Daugherty Classified gene: GDAP2 as Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.18 GDAP2 Louise Daugherty Gene: gdap2 has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.17 GDAP2 Louise Daugherty Classified gene: GDAP2 as Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.17 GDAP2 Louise Daugherty Gene: gdap2 has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.14 GDAP2 Louise Daugherty commented on gene: GDAP2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Hereditary ataxia with onset in adulthood v1.13 GDAP2 Louise Daugherty Source London North GMS was added to GDAP2.
Hereditary ataxia with onset in adulthood v1.11 GDAP2 James Polke reviewed gene: GDAP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.9 GDAP2 Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia, not listed in for gene: GDAP2
Hereditary ataxia with onset in adulthood v1.8 GDAP2 Louise Daugherty reviewed gene: GDAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 GDAP2 Tracy Lester reviewed gene: GDAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia, not listed in ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.2 GDAP2 Louise Daugherty Source NHS GMS was added to GDAP2.
Hereditary ataxia with onset in adulthood v1.1 GDAP2 Louise Daugherty gene: GDAP2 was added
gene: GDAP2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GDAP2 was set to