Genomics England

adaptor related protein complex 4 epsilon 1 subunit

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401
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 Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401