TSEN34

tRNA splicing endonuclease subunit 34
OMIM: 608754, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green TSEN34 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2C, OMIM:612390 pontocerebellar hypoplasia type 2C, MONDO:0012891 Tags Q4_25_demote_amber
Red TSEN34 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Pontocerebellar hypoplasia 2C (612390)
Red TSEN34 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Pontocerebellar hypoplasia type 2C 612390
Amber TSEN34 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.86	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Other Literature Phenotypes Pontocerebellar hypoplasia type 2C, OMIM:612390 pontocerebellar hypoplasia type 2C, MONDO:0012891
Red TSEN34 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pontocerebellar hypoplasia 2C (612390)
Green TSEN34 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 Tags Q4_25_demote_amber
Green TSEN34 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
Amber TSEN34 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 Tags watchlist
Green TSEN34 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2C, OMIM:612390 pontocerebellar hypoplasia type 2C, MONDO:0012891 Tags Q4_25_demote_amber
Red TSEN34 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia 2C, 612390 Pontocerebellar hypoplasia 2C (612390)
Red TSEN34 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH