Dystonia - isolated/combined
STR: XDPGRCh37 Position: 70672905-70672979
GRCh38 Position: 71453055-71453129
Repeated Sequence: CCCTCT
Normal Number of Repeats: < 13
Pathogenic Number of Repeats: = or > 30
TAF1 (TATA-box binding protein associated factor 1)
EnsemblGeneIds (GRCh38): ENSG00000147133
EnsemblGeneIds (GRCh37): ENSG00000147133
OMIM: 313650, Gene2Phenotype
TAF1 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron. The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset. The mechanism of disease is unknown, possibly this intronic retroelement may induce transcriptional interference in TAF1 expression.
Sources: Expert listCreated: 28 Aug 2021, 10:23 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dystonia-Parkinsonism, X-linked MIM#314250
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- XDP
- Chromosome
- X
- GRCh37 Coordinates
- 70672905-70672979
- GRCh38 Coordinates
- 71453055-71453129
- Repeated Sequence
- CCCTCT
- Normal Number of Repeats: <
- 13
- Pathogenic Number of Repeats: = or >
- 30
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Dystonia-Parkinsonism, X-linked MIM#314250
- Tags
- OMIM
- 313650
- Clinvar variants
- Variants in TAF1
- Penetrance
- None
- Publications
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: xdp has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: xdp has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: XDP was added STR: XDP was added to Dystonia - isolated/combined. Sources: Expert list founder tags were added to STR: XDP. Mode of inheritance for STR: XDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: XDP were set to 17273961; 29229810 Phenotypes for STR: XDP were set to Dystonia-Parkinsonism, X-linked MIM#314250 Review for STR: XDP was set to GREEN STR: XDP was marked as clinically relevant