SPTBN2

spectrin beta, non-erythrocytic 2
OMIM: 604985, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green SPTBN2 in Ataxia and cerebellar anomalies - narrow panel Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 5, OMIM:600224 Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Green SPTBN2 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 UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Spinocerebellar ataxia 5, OMIM:600224 Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Green SPTBN2 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 Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Other Eligibility statement prior genetic testing Phenotypes Spinocerebellar ataxia 5, OMIM:600224 Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Red SPTBN2 in Adult onset neurodegenerative disorder Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BOTH monoallelic and 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 5, OMIM:600224 Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Red SPTBN2 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red DD-Gene2Phenotype Phenotypes SCA14 Infantile ataxia with oculomotor and pyramidal signs Spinocerebellar ataxia, autosomal recessive 14, 615386 Tags watchlist
Green SPTBN2 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes SCA14 Infantile ataxia with oculomotor and pyramidal signs
Red SPTBN2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Hereditary Neuropathies
Green SPTBN2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.9 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Green SPTBN2 in Hereditary ataxia with onset in adulthood Version 5.3 Latest signed off version: v5.0 (1 May 2024)	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 Spinocerebellar ataxia 5, OMIM:600224 Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Red SPTBN2 in Hereditary neuropathy or pain disorder Version 4.8 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies
Red SPTBN2 in Childhood onset dystonia, chorea or related movement disorder Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green SPTBN2 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 Spinocerebellar ataxia 5, 600224 Spinocerebellar ataxia, autosomal recessive 14, 615386