Ataxia - adult onset
STR: SCA31
Chromosome: 16
GRCh37 Position: 66524301-66524302
GRCh38 Position: 66490398-66490399
Repeated Sequence: TGGAA
Normal Number of Repeats: < 22
Pathogenic Number of Repeats: = or > 80
BEAN1 (brain expressed associated with NEDD4 1)
EnsemblGeneIds (GRCh38): ENSG00000166546
EnsemblGeneIds (GRCh37): ENSG00000166546
OMIM: 612051, Gene2Phenotype
BEAN1 is in 0 panels
GRCh37 Position: 66524301-66524302
GRCh38 Position: 66490398-66490399
Repeated Sequence: TGGAA
Normal Number of Repeats: < 22
Pathogenic Number of Repeats: = or > 80
BEAN1 (brain expressed associated with NEDD4 1)
EnsemblGeneIds (GRCh38): ENSG00000166546
EnsemblGeneIds (GRCh37): ENSG00000166546
OMIM: 612051, Gene2Phenotype
BEAN1 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Complex repeat insertion (TGGAA)n, (TAGAA)n, (TAAAA)n, (TAAAATAGAA)n, TGGAA is present only in affected cases. Sequencing showed that the insertion consisted of a preceding TCAC sequence, and 3 pentanucleotide repeat components (TGGAA)n, (TAGAA)n, and (TAAAA)n in all patients tested.
2.5-3.8 KB insertion is associated with disease and RNA toxicity expected to be mechanism of disease
Normal and pathogenic cut-offs are based on animal model experiments (PMID: 31755042)
Sources: LiteratureCreated: 28 Aug 2020, 3:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 31 MIM#117210
Publications
Details
- Name
- SCA31
- Chromosome
- 16
- GRCh37 Coordinates
- 66524301-66524302
- GRCh38 Coordinates
- 66490398-66490399
- Repeated Sequence
- TGGAA
- Normal Number of Repeats: <
- 22
- Pathogenic Number of Repeats: = or >
- 80
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Spinocerebellar ataxia 31 MIM#117210
- Tags
- OMIM
- 612051
- Clinvar variants
- Variants in BEAN1
- Penetrance
- None
- Publications
History Filter Activity
28 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: sca31 has been classified as Green List (High Evidence).
28 Aug 2020, Gel status: 1
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: SCA31 was added STR: SCA31 was added to Ataxia - adult onset. Sources: Literature STR tags were added to STR: SCA31. Mode of inheritance for STR: SCA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA31 were set to 19878914; 31755042 Phenotypes for STR: SCA31 were set to Spinocerebellar ataxia 31 MIM#117210 Review for STR: SCA31 was set to GREEN