Genomics England

catenin beta 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075
Green in Retinal disorders R-numbers: R32 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Exudative vitreoretinopathy 7, OMIM:617572
Green in Severe microcephaly R-numbers: R88 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075