Early onset dystonia
STR: JPH3_CTGGRCh37 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: 1.111
Louise Daugherty (Genomics England Curator)
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Added to the panel following the Webex discussion with GMC experts (6/09/2018) about feeding back STR resultsCreated: 4 Dec 2018, 2:53 p.m.
Added to the panel following the Webex discussion with GMC experts (6/09/2018) about feeding back STR results
Sources: Expert ReviewCreated: 4 Dec 2018, 2:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
- Phenotypes
-
- Huntington disease-like 2, OMIM:606438
- Tags
- OMIM
- 605268
- Clinvar variants
- Variants in JPH3
- Penetrance
- None
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Str: jph3_ctg has been classified as Green List (High Evidence).
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)
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
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for STR: JPH3_CTG were changed from to Huntington disease-like 2 606438
Changed Repeated Sequence
Arianna Tucci (Genomics England Curator)Repeated Sequence for JPH3_CTG was changed from CAG to CTG.
Changed Repeated Sequence
Louise Daugherty (Genomics England Curator)Repeated Sequence for JPH3_CTG was changed from CTG to CAG.
Changed Repeated Sequence, Status Update
Louise Daugherty (Genomics England Curator)Repeated Sequence for JPH3_CTG was changed from CAG to CTG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Added Tag
Louise Daugherty (Genomics England Curator)Tag STR tag was added to STR: JPH3_CTG.
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: jph3_ctg has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: jph3_ctg has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Arianna Tucci (Genomics England Curator)STR: JPH3_CTG was added STR: JPH3_CTG was added to Early onset dystonia. Sources: Expert Review Mode of inheritance for STR: JPH3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: JPH3_CTG was set to GREEN