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Adult onset neurodegenerative disorder
STR: JPH3_CTG

Chromosome: 16
GRCh37 Position: 87637894-87637932
GRCh38 Position: 87604288-87604326
Repeated Sequence: CTG
Normal Number of Repeats: < 29
Pathogenic Number of Repeats: = or > 40

JPH3 (junctophilin 3)
EnsemblGeneIds (GRCh38): ENSG00000154118
EnsemblGeneIds (GRCh37): ENSG00000154118
OMIM: 605268, Gene2Phenotype
JPH3 is in 0 panels

4 reviews

Eleanor Williams (Genomics England Curator)

The rating of this STR has been updated to green after review of STRs on panels that have moved to WGS in phase 2 and NHS Genomic Medicine Service approval.
Created: 31 Jul 2023, 1:51 p.m. | Last Modified: 31 Jul 2023, 1:51 p.m.

Panel Version: 4.33

Created: 31 Jul 2023, 1:51 p.m.
Last Modified: 31 Jul 2023, 1:51 p.m.
Panel version: 4.33

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Created: 29 Jun 2023, 4:19 p.m. | Last Modified: 29 Jun 2023, 4:23 p.m.

Panel Version: 4.28

It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Created: 29 Jun 2023, 4:16 p.m. | Last Modified: 29 Jun 2023, 4:22 p.m.

Panel Version: 4.28

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 1:10 p.m. | Last Modified: 15 Mar 2022, 1:10 p.m.

Panel Version: 2.267

Created: 15 Mar 2022, 1:10 p.m.
Last Modified: 29 Jun 2023, 4:23 p.m.
Panel version: 4.28

Arina Puzriakova (Genomics England Curator)

Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.
Created: 6 Oct 2020, 10:35 a.m. | Last Modified: 6 Oct 2020, 10:35 a.m.

Panel Version: 2.20

Created: 6 Oct 2020, 10:35 a.m.
Last Modified: 6 Oct 2020, 10:35 a.m.
Panel version: 2.20

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Mean age of onset 35-40 years.
Created: 23 Jul 2019, 5 p.m. | Last Modified: 23 Jul 2019, 5 p.m.

Panel Version: 1.75

Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 24 Apr 2019, 2:35 p.m.

Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45, Early onset dystonia v1.76.
Sources: Expert list
Created: 20 Dec 2018, 3:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Huntington disease-like 2 606438

Created: 20 Dec 2018, 3:56 p.m.

Panel version: 1.75

Details

Name

JPH3_CTG

Chromosome

GRCh37 Coordinates

87637894-87637932

GRCh38 Coordinates

87604288-87604326

Repeated Sequence

CTG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Yorkshire and North East GLH
NHS GMS
London North GLH
Expert list

Phenotypes

Huntington disease-like 2, OMIM:606438

Tags

STR

OMIM

605268

Clinvar variants

Variants in JPH3

Penetrance

None

History Filter Activity

31 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Str: jph3_ctg has been classified as Green List (High Evidence).

31 Jul 2023, Gel status: 2

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist was removed from STR: JPH3_CTG. Tag Q3_23_promote_green was removed from STR: JPH3_CTG.

29 Jun 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to STR: JPH3_CTG.

10 Mar 2022, Gel status: 2

Changed Pathogenic Number of Repeats

Arina Puzriakova (Genomics England Curator)

Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.

9 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: JPH3_CTG were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438

9 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to STR: JPH3_CTG.

6 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: jph3_ctg has been classified as Amber List (Moderate Evidence).

23 Jul 2019, Gel status: 3