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Adult onset movement disorder

STR: HTT_CAG

Green List (high evidence)

Chromosome: 4
GRCh37 Position: 3076604-3076666
GRCh38 Position: 3074877-3074939
Repeated Sequence: CAG
Normal Number of Repeats: < or = 40
Pathogenic Number of Repeats: = or > 40

HTT (huntingtin)
EnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 17 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:26 p.m. | Last Modified: 5 Aug 2019, 3:26 p.m.
Panel Version: 0.95
STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR
Created: 23 Apr 2019, 1:32 p.m.
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Created: 11 Jan 2019, 3:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Huntington disease 143100

Publications

Details

Name
HTT_CAG
Chromosome
4
GRCh37 Coordinates
3076604-3076666
GRCh38 Coordinates
3074877-3074939
Repeated Sequence
CAG
Normal Number of Repeats: < or =
40
Pathogenic Number of Repeats: = or >
40
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Huntington disease 143100
Tags
STR
OMIM
613004
Clinvar variants
Variants in HTT
Penetrance
None
Publications

History Filter Activity

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: HTT_CAG.

23 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: HTT_CAG. Rating Changed from Green List (high evidence) to Green List (high evidence)

11 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

11 Jan 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: HTT_CAG was added STR: HTT_CAG was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: HTT_CAG. Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HTT_CAG were set to 24256063 Phenotypes for STR: HTT_CAG were set to Huntington disease 143100 Review for STR: HTT_CAG was set to GREEN