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BEAN1

brain expressed associated with NEDD4 1
OMIM: 612051, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red BEAN1 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.22 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Spinocerebellar ataxia 31 117210
Red BEAN1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Spinocerebellar ataxia 31 117210 Tags structural-variant currently-ngs-unreportable nucleotide-repeat-expansion
Red BEAN1 in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.4 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Spinocerebellar ataxia 31 117210 Tags nucleotide-repeat-expansion currently-ngs-unreportable structural-variant
Red BEAN1 in Intellectual disability Level 2: Developmental disorders Version 10.98 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 31 117210 Tags nucleotide-repeat-expansion currently-ngs-unreportable structural-variant
Red BEAN1 in Hereditary ataxia, adult onset Level 2: Neurology Version 9.4 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 31, 117210 Spinocerebellar ataxia 31 117210 Tags nucleotide-repeat-expansion currently-ngs-unreportable structural-variant
Red BEAN1_TGGAA STR in Hereditary ataxia, adult onset Level 2: Neurology Version 9.4 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Spinocerebellar ataxia 31, OMIM:117210 spinocerebellar ataxia type 31, MONDO:0007296 Tags STR NGS Not Validated