Dystonia - childhood 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 6 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Source PanelApp panels : Early onset dystonia v1.76
Sources: Expert list
Created: 21 Dec 2018, 5:32 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
  • 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

9 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Early

21 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).

21 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 Dystonia - childhood 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