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TSEN54

tRNA splicing endonuclease subunit 54
OMIM: 608755, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red TSEN54 in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 6.9 Latest signed off version: v6.8 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470
Green TSEN54 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.30 Latest signed off version: v9.22 (12 Aug 2026) 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 5, OMIM:610204 Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753
Green TSEN54 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753
Green TSEN54 in Arthrogryposis Level 2: Neurology Version 10.20 Latest signed off version: v10.16 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Expert list Phenotypes Pontocerebellar hypoplasia type 4, OMIM:225753
Green TSEN54 in Severe microcephaly Level 2: Neurology Version 9.26 Latest signed off version: v9.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753
Green TSEN54 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.87	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Literature Other Phenotypes ?Pontocerebellar hypoplasia type 5, OMIM:610204 Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753
Red TSEN54 in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.7 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	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 Pontocerebellar hypoplasia 2A, 277470 Pontocerebellar hypoplasia 4, 225753
Green TSEN54 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ?Pontocerebellar hypoplasia type 5, OMIM:610204 Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753
Green TSEN54 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
Green TSEN54 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.73 Latest signed off version: v9.56 (12 Aug 2026) 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 Green Victorian Clinical Genetics Services Phenotypes ?Pontocerebellar hypoplasia type 5, OMIM:610204 Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753
Green TSEN54 in Intellectual disability Level 2: Developmental disorders Version 11.23 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Pontocerebellar hypoplasia type 5, OMIM:610204 Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753
Green TSEN54 in Hereditary ataxia, adult onset Level 2: Neurology Version 9.10 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753
Red TSEN54 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH
Red TSEN54 in Acute rhabdomyolysis Level 2: Neurology Version 3.1 Latest signed off version: v3.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470