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Neurodegenerative disorders - adult onset

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)

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

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
  • Yorkshire and North East GLH
  • 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 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to STR: JPH3_CTG.

9 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: JPH3_CTG.

9 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: JPH3_CTG.

25 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Parki

20 Dec 2018, 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).

20 Dec 2018, 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 Neurodegenerative disorders - adult onset. 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