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: < or = 29
Pathogenic Number of Repeats: = or > 41

JPH3 (junctophilin 3)
EnsemblGeneIds (GRCh38): ENSG00000154118
EnsemblGeneIds (GRCh37): ENSG00000154118
OMIM: 605268, Gene2Phenotype
JPH3 is in 6 panels

2 reviews

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.

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

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
  • Expert list
Phenotypes
  • Huntington disease-like 2 606438
Tags
STR
OMIM
605268
Clinvar variants
Variants in JPH3
Penetrance
None

History Filter Activity

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