Genomics England

citron rho-interacting serine/threonine kinase

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PRIMARY MICROCEPHALY 615414
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 17, primary, autosomal recessive, OMIM:617090, Microcephaly 17, primary, autosomal recessive, MONDO:0014908
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 Microcephaly 17, primary, autosomal recessive, 617090
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes autosomal-recessive primary microcephaly, MCPH, Microcephaly 17, primary, autosomal recessive, 617090