UCHL1:Ensemblv115

ubiquitin C-terminal hydrolase L1
OMIM: 191342, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red UCHL1 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	Unknown	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Expert Review Red
Green UCHL1 in Incidentalome Version 1.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Expert Review Green 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 Optic Atrophy Level 2: Ophthalmological disorders Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Spastic paraplegia 79, autosomal recessive (MIM#615491)
Green UCHL1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Spastic paraplegia 79, autosomal recessive, MIM# 615491 MONDO:0014209 Neurodegenerative disease, MONDO:0005559, UCHL1-related
Green UCHL1 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green 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 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes Neurodegenerative disease, MONDO:0005559, UCHL1-related