JPH3

junctophilin 3
OMIM: 605268, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red JPH3 in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.128	review	Other	Sources Expert list Phenotypes Huntington disease-like 2, OMIM:606438 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red JPH3 in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.84	review	Other	Sources Expert Review Phenotypes Huntington disease-like 2, OMIM:606438 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red JPH3 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	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
Red JPH3 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Paroxysmal dystonia, MONDO:0016058
Red JPH3 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	Other	Sources NHS GMS South West GLH Expert Review Red Phenotypes Huntington disease-like 2, OMIM:606438
Green JPH3_CTG STR in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.128	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Huntington disease-like 2, OMIM:606438 Tags STR
Green JPH3_CTG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.84	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Huntington disease-like 2, OMIM:606438 Tags STR
Green JPH3_CTG STR in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Huntington disease-like 2, OMIM:606438 Tags STR
Green JPH3_CTG STR in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Yorkshire and North East GLH NHS GMS London North GLH Expert list Phenotypes Huntington disease-like 2, OMIM:606438 Tags STR
Green JPH3_CTG STR in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Expert list Phenotypes Huntington disease-like 2, OMIM:606438 Tags STR