Repeat Disorders

STR: XDP

Green List (high evidence)

Chromosome: X
GRCh37 Position: 70672905-70672979
GRCh38 Position: 71453055-71453129
Repeated Sequence: CCCTCT
Normal Number of Repeats: < or = 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 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Founder Filipino variant. Associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within intron 32. 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 list
Created: 28 Aug 2021, 10:12 a.m. | Last Modified: 28 Aug 2021, 10:27 a.m.
Panel Version: 0.88

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Dystonia-Parkinsonism, X-linked MIM#314250

Publications

Clinically Relevant

Interruptions 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: < or =
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
founder adult-onset
OMIM
313650
Clinvar variants
Variants in TAF1
Penetrance
None
Publications

History Filter Activity

10 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag adult-onset tag was added to STR: XDP.

28 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: xdp has been classified as Green List (High Evidence).

28 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: xdp has been classified as Green List (High Evidence).

28 Aug 2021, Gel status: 1

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 Repeat Disorders. 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