TDP1

tyrosyl-DNA phosphodiesterase 1
OMIM: 607198, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red TDP1 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Red TDP1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Red TDP1 in Adult onset neurodegenerative disorder Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Red TDP1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Emory Genetics Laboratory UKGTN Expert list Phenotypes Hereditary Neuropathies
Green TDP1 in Hereditary ataxia with onset in adulthood Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250 Tags founder-effect
Amber TDP1 in Hereditary neuropathy or pain disorder Version 4.8 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH UKGTN Emory Genetics Laboratory Expert list NHS GMS NHS GMS South West GLH Phenotypes ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250 Tags founder-effect