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Adult onset movement disorder

STR: JPH3_CTG

Green List (high evidence)

Chromosome: 16
GRCh37 Position: 87637894-87637932
GRCh38 Position: 87604288-87604326
Repeated Sequence: CTG
Normal Number of Repeats: < or = 29
Pathogenic Number of Repeats: = or > 41

JPH3 (junctophilin 3)
EnsemblGeneIds (GRCh38): ENSG00000154118
EnsemblGeneIds (GRCh37): ENSG00000154118
OMIM: 605268, Gene2Phenotype
JPH3 is in 5 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, 3:27 p.m. | Last Modified: 5 Aug 2019, 3:27 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, 1:33 p.m.
Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.6
Sources: Expert list
Created: 11 Jan 2019, 3:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Huntington disease-like 2 606438

Details

Name
JPH3_CTG
Chromosome
16
GRCh37 Coordinates
87637894-87637932
GRCh38 Coordinates
87604288-87604326
Repeated Sequence
CTG
Normal Number of Repeats: < or =
29
Pathogenic Number of Repeats: = or >
41
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Huntington disease-like 2 606438
Tags
STR
OMIM
605268
Clinvar variants
Variants in JPH3
Penetrance
None

History Filter Activity

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: JPH3_CTG.

23 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: JPH3_CTG. 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: jph3_ctg 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 Phenotypes

Louise Daugherty (Genomics England Curator)

STR: JPH3_CTG was added STR: JPH3_CTG was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: JPH3_CTG. Mode of inheritance for STR: JPH3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: JPH3_CTG were set to Huntington disease-like 2 606438 Review for STR: JPH3_CTG was set to GREEN