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Intellectual disability

Gene: JPH3

Red List (low evidence)

JPH3 (junctophilin 3)
EnsemblGeneIds (GRCh38): ENSG00000154118
EnsemblGeneIds (GRCh37): ENSG00000154118
OMIM: 605268, Gene2Phenotype
JPH3 is in 7 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is asssociated with a phenotype in OMIM but not Gene2Phenotype. As there is only one case there is not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Created: 14 Jul 2021, 1:01 p.m. | Last Modified: 14 Jul 2021, 1:01 p.m.
Panel Version: 3.1186

Zornitza Stark (Australian Genomics)

Red List (low evidence)

One homozygous truncating variant (NM_020655.4: c.1740dup; p.(Val581Argfs*137)) found in a female individual affected with neurodevelopmental anomalies (including delayed motor milestones, abnormal social communication, language difficulties and borderline cognitive impairment) and paroxysmal attacks of dystonia since her early infancy. No functional work.

STRs in this gene are associated with HD-like disorder.
Sources: Literature
Created: 9 Jul 2021, 5:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Intellectual disability; dystonia



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Neurodevelopmental disorder, MONDO:0700092
  • Paroxysmal dystonia, MONDO:0016058
Clinvar variants
Variants in JPH3
Panels with this gene

History Filter Activity

9 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: JPH3 were changed from Intellectual disability; dystonia to Neurodevelopmental disorder, MONDO:0700092; Paroxysmal dystonia, MONDO:0016058

14 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: jph3 has been classified as Red List (Low Evidence).

9 Jul 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: JPH3 was added gene: JPH3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: JPH3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JPH3 were set to 33824468 Phenotypes for gene: JPH3 were set to Intellectual disability; dystonia Review for gene: JPH3 was set to RED