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  2. Early onset dementia (encompassing fronto-temporal dementia and prion disease)
  3. JPH3_CTG
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Early onset dementia (encompassing fronto-temporal dementia and prion disease)

STR: JPH3_CTG

Green List (high evidence)
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

3 reviews

Sarah Leigh (Genomics England Curator)

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: 1.76
Created: 15 Mar 2022, 1:10 p.m.
Last Modified: 15 Mar 2022, 1:10 p.m.
Panel version: 1.76

Arianna Tucci (Genomics England Curator)

Comment on list classification: marked as green as expansions can cause progressive congitive abnormalities
Created: 5 Jun 2018, 3:38 p.m.
Created: 5 Jun 2018, 3:38 p.m.

Panel version: 1.19

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Normal Number of Repeats was changed from 28 to 29.
Created: 6 Jun 2018, 1:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Huntington disease-like 2 606438

Variants in this STR are reported as part of current diagnostic practice

Created: 31 May 2018, 1:07 p.m.

Panel version: 1.21

Details

Name
JPH3_CTG
Chromosome
16
GRCh37 Coordinates
87637894-87637932
GRCh38 Coordinates
87604288-87604326
Repeated Sequence
CTG
Normal Number of Repeats: <
29
Pathogenic Number of Repeats: = or >
40
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Huntington disease-like 2, OMIM:606438
Tags
STR
OMIM
605268
Clinvar variants
Variants in JPH3
Penetrance
None

History Filter Activity

10 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

10 Mar 2022, Gel status: 1

Changed Pathogenic Number of Repeats, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40. Source NHS GMS was added to STR: JPH3_CTG. Rating Changed from Green List (high evidence) to Red List (low evidence)

9 Nov 2021, Gel status: 3

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

6 Jun 2018, Gel status: 4

Changed Normal Number of Repeats

Ellen McDonagh (Genomics England Curator)

Normal Number of Repeats for JPH3_CTG was changed from 28 to 29. Panel: Early onset dementia (encompassing fronto-temporal dementia and prion disease)

5 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: JPH3_CTG. Panel: Early onset dementia (encompassing fronto-temporal dementia and prion disease)

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: JPH3_CTG was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease) panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: JPH3_CTG was created by Ellen McDonagh