Repeat Disorders
STR: SCA_THAP11_CAGGRCh37 Position: 67876766-67876853
GRCh38 Position: 67842863-67842950
Repeated Sequence: CAG
Normal Number of Repeats: < 39
Pathogenic Number of Repeats: = or > 47
THAP11 (THAP domain containing 11)
EnsemblGeneIds (GRCh38): ENSG00000168286
EnsemblGeneIds (GRCh37): ENSG00000168286
OMIM: 609119, Gene2Phenotype
THAP11 is in 0 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 51, MIM# 620947
Bryony Thompson (Royal Melbourne Hospital)
7 individuals from 2 Chinese families with SCA (1 was pre-ataxic) and a THAP11 CAG (polyQ) expansion. 45 repeats was the lowest number of repeats in an affected individual. A 46/29 CAG THAP11 genotype has also been identified in an individual with ataxia of European ancestry, that also had a CACNA1A pathogenic expansion which causes SCA6. Analysis of the 1000 genomes cohort (n=2504), suggests a normal range between 19-39. Also, a supporting mouse model and functional assays support a toxic aggregation mechanism of disease.
Further probands/families are required to confirm the gene-disease association.
Sources: OtherCreated: 7 Apr 2024, 1:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
autosomal dominant cerebellar ataxia MONDO:0020380
Publications
Details
- Name
- SCA_THAP11_CAG
- Chromosome
- 16
- GRCh37 Coordinates
- 67876766-67876853
- GRCh38 Coordinates
- 67842863-67842950
- Repeated Sequence
- CAG
- Normal Number of Repeats: <
- 39
- Pathogenic Number of Repeats: = or >
- 47
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- Spinocerebellar ataxia 51, MIM# 620947
- OMIM
- 609119
- Clinvar variants
- Variants in THAP11
- Penetrance
- None
- Publications
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for STR: SCA_THAP11_CAG were changed from autosomal dominant cerebellar ataxia MONDO:0020380 to Spinocerebellar ataxia 51, MIM# 620947
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: sca_thap11_cag has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: sca_thap11_cag has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: SCA_THAP11_CAG was added STR: SCA_THAP11_CAG was added to Repeat Disorders. Sources: Other Mode of inheritance for STR: SCA_THAP11_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA_THAP11_CAG were set to 15368101; 24677642; 34165550; 38113319 Phenotypes for STR: SCA_THAP11_CAG were set to autosomal dominant cerebellar ataxia MONDO:0020380 Review for STR: SCA_THAP11_CAG was set to AMBER