Genomics England

sorting nexin 14

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Autosomal recessive spinocerebellar ataxia (#616354), Spinocerebellar ataxia, autosomal recessive 20, 616354
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Autosomal recessive spinocerebellar ataxia (#616354), Autosomal recessive spinocerebellar ataxia 20, 616354
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA