Genomics England

CASP2 and RIPK1 domain containing adaptor with death domain

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499
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 Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499