Genomics England

ACBD6

acyl-CoA binding domain containing 6

Panel	Mode of inheritance	Details
Filter panels6 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 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785
Green in Severe microcephaly R-numbers: R88 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785