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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) |
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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. |
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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 |
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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 |