STUB1

STIP1 homology and U-box containing protein 1
OMIM: 607207, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green STUB1 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.52 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 48 MIM#618093 cognitive impairment Spinocerebellar ataxia, autosomal recessive 16 MIM#615768
Green STUB1 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.44 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar Ataxia 48, OMIM 618093 Parkinsonism
Green STUB1 in Mendeliome Version 1.3802	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Spinocerebellar ataxia 48, MIM#618093
Green STUB1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.601	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green STUB1 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.162 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768
Green STUB1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.45 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768
Green STUB1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
Green STUB1 in Prepair 1000+ Level 2: Screening Version 2.15	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinocerebellar ataxia, autosomal recessive 16 MIM#615768