Genomics England

EXOSC3

exosome component 3

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.19	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596
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 7.54	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.163	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678, pontocerebellar hypoplasia type 1B, MONDO:0013853
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678