Genomics England

caspase 2

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
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	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653