Genomics England

kinase D interacting substrate 220

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ventriculomegaly and arthrogryposis, OMIM:619501
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity.
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ventriculomegaly and arthrogryposis, OMIM:619501
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296
Green in Severe early-onset obesity R-numbers: R149 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296