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  2. Intellectual disability syndromic and non-syndromic
  3. JPH3
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Intellectual disability syndromic and non-syndromic

Gene: JPH3

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported with bi-allelic variants and neurodevelopmental disorder involving paroxysmal dystonia. One family with mono-allelic variant, milder. Note STRs in this gene cause a separate disorder.
Created: 18 Feb 2023, 3:19 a.m. | Last Modified: 18 Feb 2023, 3:19 a.m.
Panel Version: 0.5168

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, JPH3-related

Publications

Created: 18 Feb 2023, 3:19 a.m.
Last Modified: 18 Feb 2023, 3:19 a.m.
Panel version: 0.5168

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

One homozygous truncating variant (NM_020655.4: c.1740dup; p.(Val581Argfs*137)) found in a female individual affected with genetically undetermined 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 were performed.

Only STRs disease causing, see separate STR list. No evidence for SNVs etc.
Sources: Literature
Created: 8 Jul 2021, 4:09 a.m.

Mode of inheritance
Unknown

Phenotypes
Intellectual disability; dystonia

Publications

Created: 8 Jul 2021, 4:09 a.m.

Panel version: 0.3951

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, JPH3-related
  • Intellectual disability
  • dystonia
OMIM
605268
Clinvar variants
Variants in JPH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Feb 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: JPH3 were set to 33824468

18 Feb 2023, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: JPH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

18 Feb 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jph3 has been classified as Amber List (Moderate Evidence).

8 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

8 Jul 2021, Gel status: 1

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: JPH3 was added gene: JPH3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: JPH3 was set to Unknown 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