Genomics England

adaptor related protein complex 4 beta 1 subunit

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 614066
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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 - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551