Hereditary ataxia
STR: CACNA1A_CAGGRCh37 Position: 13318673-13318711
GRCh38 Position: 13207859-13207897
Repeated Sequence: CAG
Normal Number of Repeats: < 19
Pathogenic Number of Repeats: = or > 20
CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 0 panels
3 reviews
Eleanor Williams (Genomics England Curator)
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:47 p.m. | Last Modified: 15 Mar 2022, 12:47 p.m.
Panel Version: 1.298
Arianna Tucci (Genomics England Curator)
Comment on list classification: changed to green as diagnostic for ataxiaCreated: 5 Jun 2018, 10:57 a.m.
Ellen McDonagh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 6 183086
Variants in this STR are reported as part of current diagnostic practice
Details
- Name
- CACNA1A_CAG
- Chromosome
- 19
- GRCh37 Coordinates
- 13318673-13318711
- GRCh38 Coordinates
- 13207859-13207897
- Repeated Sequence
- CAG
- Normal Number of Repeats: <
- 19
- Pathogenic Number of Repeats: = or >
- 20
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia 6, OMIM:183086
- Tags
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- None
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Str: cacna1a_cag has been classified as Green List (High Evidence).
Changed Normal Number of Repeats, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)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)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6, OMIM:183086
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: cacna1a_cag has been classified as Green List (High Evidence).
Added Tag
Ellen McDonagh (Genomics England Curator)STR was added to STR: CACNA1A_CAG. Panel: Hereditary ataxia
Added New Source
Ellen McDonagh (Genomics England Curator)STR: CACNA1A_CAG was added to Hereditary ataxia panel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)STR: CACNA1A_CAG was created by Ellen McDonagh