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Brain channelopathy v1.77 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Brain channelopathy v1.75 CACNA1A_CAG Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
Brain channelopathy v1.75 CACNA1A_CAG Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.71 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Brain channelopathy v1.70 CACNA1A Zornitza Stark changed review comment from: Four infants, all presenting with hypotonia, mild facial dysmorphic features, encephalopathy, and seizures, born
to consanguineous parents. Testing was only performed on two of the newborns in the family. A novel homozygous nonsense c.2767C>T p.(Arg932*) variant in the exon 19 of the CACNA1A gene (NM_001127221.1). Segregation analysis showed that both parents were heterozygous carriers and they were diagnosed with EA2.; to: Four infants, all presenting with hypotonia, mild facial dysmorphic features, encephalopathy, and seizures, born
to consanguineous parents. Testing was only performed on two of the newborns in the family. A novel homozygous nonsense c.2767C>T p.(Arg932*) variant in the exon 19 of the CACNA1A gene (NM_001127221.1). Segregation analysis showed that both parents were heterozygous carriers and they were diagnosed with EA2.

Well established association between mono-allelic variants and a number of phenotypes including episodic ataxia.
Brain channelopathy v1.70 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: 34267336; Phenotypes: Hypotonia, encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain channelopathy v1.65 CACNA1A Arina Puzriakova Phenotypes for gene: CACNA1A were changed from episodic ataxia type 2 (EA2),108500; familial hemiplegic migraine type 1, 141500 to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Brain channelopathy v1.64 CACNA1A_CAG Arina Puzriakova Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6, OMIM:183086
Brain channelopathy v1.46 CACNA1A_CAG Louise Daugherty Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6 183086
Brain channelopathy v1.43 CACNA1A_CAG Arianna Tucci Phenotypes for STR: CACNA1A_CAG were changed from to Spinocerebellar ataxia 6 183086
Brain channelopathy v1.40 CACNA1A_CAG Louise Daugherty Tag STR tag was added to STR: CACNA1A_CAG.
Brain channelopathy v1.38 CACNA1A_CAG Arianna Tucci Marked STR: CACNA1A_CAG as ready
Brain channelopathy v1.38 CACNA1A_CAG Arianna Tucci Str: cacna1a_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.38 CACNA1A_CAG Arianna Tucci Classified STR: CACNA1A_CAG as Green List (high evidence)
Brain channelopathy v1.38 CACNA1A_CAG Arianna Tucci Str: cacna1a_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.37 CACNA1A_CAG Arianna Tucci STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Brain channelopathy. Sources: Expert Review
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: CACNA1A_CAG was marked as current diagnostic
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Brain channelopathy CACNA1A Arianna Tucci marked CACNA1A as ready
Brain channelopathy CACNA1A Arianna Tucci marked CACNA1A as ready
Brain channelopathy CACNA1A Arianna Tucci commented on CACNA1A
Brain channelopathy CACNA1A Arianna Tucci reviewed CACNA1A