UBQLN2

ubiquilin 2
OMIM: 300264, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green UBQLN2 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	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857)
Green UBQLN2 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.39 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis type 15 (MONDO:0010459 MIM#300857)
Green UBQLN2 in Incidentalome Version 0.360	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MONDO: 0010459 MIM#300857)
Green UBQLN2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green