Genomics England

adaptor related protein complex 4 beta 1 subunit

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 3.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 4.28	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 614066
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.24	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551