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Intellectual disability

STR: THAP11_CAG

Red List (low evidence)
Chromosome: 16
GRCh38 Position: 67842863-67842950
Repeated Sequence: CAG
Normal Number of Repeats: < 38
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

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

PMID: 37148549 - 2 Chinese cases but one case had unaffected father with same number of repeats, PMID: 38113319 - 1 European case but inconclusive due to additional STR.

Also PMID: 38757579 and PMID: 39441143 report no cases with this repeat.
Created: 19 Mar 2025, 2:12 p.m. | Last Modified: 19 Mar 2025, 2:12 p.m.
Panel Version: 8.162
Comment on list classification: This STR has not been approved by NHS STR working group and is not NGS Not Validated
Created: 19 Mar 2025, 1:55 p.m. | Last Modified: 19 Mar 2025, 1:55 p.m.
Panel Version: 8.162
THAP11 transcribed from the forward strand.
THAP11_CAG is not on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3
THAP11_CAG is not is not DRAGON 4.02 or other previous versions.
The coordinates and pathogenic ranges of the sequence repeats were obtained from https://stripy.org/database/THAP11

This STR has not been approved by NHS STR working group and is not NGS Not Validated
Sources: Literature
Created: 19 Mar 2025, 1:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 51, OMIM:620947

Publications

Created: 19 Mar 2025, 1:53 p.m.

Panel version: 8.162

Details

Name
THAP11_CAG
Chromosome
16
GRCh38 Coordinates
67842863-67842950
Repeated Sequence
CAG
Normal Number of Repeats: <
38
Pathogenic Number of Repeats: = or >
47
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spinocerebellar ataxia 51, OMIM:620947
Tags
STR NGS Not Validated
OMIM
609119
Clinvar variants
Variants in THAP11
Penetrance
None
Publications

History Filter Activity

19 Mar 2025, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Str: thap11_cag has been classified as Red List (Low Evidence).

19 Mar 2025, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

STR: THAP11_CAG was added STR: THAP11_CAG was added to Intellectual disability. Sources: Literature STR, NGS Not Validated tags were added to STR: THAP11_CAG. Mode of inheritance for STR: THAP11_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: THAP11_CAG were set to 37148549; 38757579; 39441143 Phenotypes for STR: THAP11_CAG were set to Spinocerebellar ataxia 51, OMIM:620947 Review for STR: THAP11_CAG was set to RED