Repeat Disorders
STR: HDL2GRCh37 Position: 87637894-87637935
GRCh38 Position: 87604288-87604329
Repeated Sequence: CTG
Normal Number of Repeats: < 28
Pathogenic Number of Repeats: = or > 40
JPH3 (junctophilin 3)
EnsemblGeneIds (GRCh38): ENSG00000154118
EnsemblGeneIds (GRCh37): ENSG00000154118
OMIM: 605268, Gene2Phenotype
JPH3 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]
In an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein
Normal: ≤28 repeats
Questionable significance: 29-39 repeats, mutable normal or reduced penetrance included
Full penetrance: ≥40 repeats
Sources: Expert listCreated: 20 Jun 2021, 2:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease-like 2 MIM#606438
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- HDL2
- Chromosome
- 16
- GRCh37 Coordinates
- 87637894-87637935
- GRCh38 Coordinates
- 87604288-87604329
- Repeated Sequence
- CTG
- Normal Number of Repeats: <
- 28
- Pathogenic Number of Repeats: = or >
- 40
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Huntington disease-like 2 MIM#606438
- Tags
- OMIM
- 605268
- Clinvar variants
- Variants in JPH3
- Penetrance
- None
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag adult-onset tag was added to STR: HDL2.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: hdl2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: hdl2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: HDL2 was added STR: HDL2 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: HDL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HDL2 were set to 11558794; 20301701 Phenotypes for STR: HDL2 were set to Huntington disease-like 2 MIM#606438 Review for STR: HDL2 was set to GREEN STR: HDL2 was marked as clinically relevant