JPH3

junctophilin 3
OMIM: 605268, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
No list JPH3 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.43 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Huntington Disease Like 2 (HDL2) Parkinsonism Severe Dementia OMIM 606438 Tags STR
Amber JPH3 in Mendeliome Version 1.3512	4 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder, MONDO:0700092, JPH3-related Intellectual disability dystonia
Amber JPH3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, JPH3-related Intellectual disability dystonia
Amber JPH3 in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.144 Component of the following Super Panels: Dystonia_Superpanel Tremors_Superpanel	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes paroxysmal dystonia, intellectual disability
Green JPH3_HDL2_CTG STR in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.50 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Huntington disease-like 2 MIM#606438 Tags STR
Green JPH3_HDL2_CTG STR in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.43 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Huntington disease-like 2 MIM#606438
Green JPH3_HDL2_CTG STR in Mendeliome Version 1.3512	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Huntington disease-like 2 MIM#606438
Green JPH3_HDL2_CTG STR in Repeat Disorders Version 0.269	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Huntington disease-like 2 MIM#606438 Tags adult-onset