JPH3

junctophilin 3
OMIM: 605268, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red JPH3 in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	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 1.83	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 Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.555 Latest signed off version: v5.0 (22 Mar 2023) 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 Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	Other	Sources NHS GMS South West GLH Expert Review Red Phenotypes Huntington disease-like 2, OMIM:606438
Green JPH3 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list 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 1.121	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 1.83	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 1.147	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 Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	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