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 2.6 Signed off v.2.2 on 2 Mar 2020 Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 16 Spinocerebellar ataxia, autosomal recessive 16 615768
Green STUB1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.205	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia, autosomal recessive 16
Red STUB1 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.39	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 16 615768
Red STUB1 in Neurodegenerative disorders - adult onset Version 2.4 Signed off v.2.2 on 2 Mar 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 16
Red STUB1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.24 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768
Green STUB1 in Hereditary ataxia - adult onset Version 2.8 Signed off v.2.7 on 10 Mar 2020	review	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, 615768 Spinocerebellar ataxia, autosomal recessive 16
Amber STUB1 in Childhood onset dystonia or chorea or related movement disorder Version 1.4 Signed off v.1.2 on 25 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Amber Phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768
Green STUB1 in Severe Paediatric Disorders Version 1.1	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768 ?Spinocerebellar ataxia 48, 618093