Genomics England

catenin beta 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	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 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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 9.14	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Exudative vitreoretinopathy 7, OMIM:617572
Green in Severe microcephaly R-numbers: R88 Signed-off version 9.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075