UCHL1

ubiquitin C-terminal hydrolase L1
OMIM: 191342, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red UCHL1 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	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services
Green UCHL1 in Incidentalome Version 0.360	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 79A, autosomal dominant, MIM# 620221 Spastic paraplegia 79, autosomal recessive, MIM# 615491 MONDO:0014209 Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags for review
Green UCHL1 in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Spastic paraplegia 79A, autosomal dominant, MIM# 620221 Spastic paraplegia 79, autosomal recessive, 615491 MONDO:0014209 Neurodegenerative disease, MONDO:0005559, UCHL1-related
Green UCHL1 in Optic Atrophy Level 2: Ophthalmological disorders Version 1.54 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 79, autosomal recessive (MIM#615491)
Green UCHL1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 79, autosomal recessive, MIM# 615491 MONDO:0014209 Neurodegenerative disease, MONDO:0005559, UCHL1-related
Red UCHL1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Spastic paraplegia 79, autosomal recessive OMIM #615491
Green UCHL1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.60 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 79, autosomal recessive, MIM#615491 Neurodegenerative disease, MONDO:0005559, UCHL1-related
Green UCHL1 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.102 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 79A, autosomal dominant, MIM# 620221 Spastic paraplegia 79, autosomal recessive, 615491 MONDO:0014209 Neurodegenerative disease, MONDO:0005559, UCHL1-related
Green UCHL1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.40 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodegenerative disease, MONDO:0005559, UCHL1-related