Genomics England

TSEN54

tRNA splicing endonuclease subunit 54

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia type 4, OMIM:225753
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Pontocerebellar hypoplasia type 5, OMIM:610204, Pontocerebellar hypoplasia type 2A, OMIM:277470, Pontocerebellar hypoplasia type 4, OMIM:225753
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Pontocerebellar hypoplasia type 5, OMIM:610204, Pontocerebellar hypoplasia type 2A, OMIM:277470, Pontocerebellar hypoplasia type 4, OMIM:225753
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Pontocerebellar hypoplasia type 5, OMIM:610204, Pontocerebellar hypoplasia type 2A, OMIM:277470, Pontocerebellar hypoplasia type 4, OMIM:225753
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470, Pontocerebellar hypoplasia type 4, OMIM:225753
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Pontocerebellar hypoplasia type 5, OMIM:610204, Pontocerebellar hypoplasia type 2A, OMIM:277470, Pontocerebellar hypoplasia type 4, OMIM:225753
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470, Pontocerebellar hypoplasia type 4, OMIM:225753