STUB1

STIP1 homology and U-box containing protein 1
OMIM: 607207, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green STUB1 in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526
Green STUB1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526
Red STUB1 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.73	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526
Green STUB1 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526
Red STUB1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526
Green STUB1 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526
Amber STUB1 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH Expert Review Amber Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526
Green STUB1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526