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  3. JPH3
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Adult onset neurodegenerative disorder

Gene: JPH3

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 9 Nov 2021, 4:39 p.m. | Last Modified: 9 Nov 2021, 4:39 p.m.
Panel Version: 2.228
Created: 9 Nov 2021, 4:39 p.m.
Last Modified: 9 Nov 2021, 4:39 p.m.
Panel version: 2.228

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Created: 23 Jul 2019, 3:51 p.m.
Last Modified: 23 Jul 2019, 3:51 p.m.
Panel version: 1.74

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Point mutations not associated with Huntington disease like 2
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Huntington disease-like 2 606438

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Details

Mode of Inheritance
Other
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
Phenotypes
  • Huntington disease-like 2, OMIM:606438
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
605268
Clinvar variants
Variants in JPH3
Penetrance
None
Panels with this gene

History Filter Activity

9 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: JPH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other

9 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: JPH3 were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to JPH3.

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to JPH3.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Added Tag, Added Tag

Rebecca Foulger (Genomics England curator)

Tag nucleotide-repeat-expansion tag was added to gene: JPH3. Tag currently-ngs-unreportable tag was added to gene: JPH3.

18 Dec 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Huntington disease-like 2 606438 for gene: JPH3

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: JPH3 was added gene: JPH3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: JPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: JPH3 were set to Huntington disease-like 2 606438