Genomics England

abnormal spindle microtubule assembly

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 5, primary, autosomal recessive, OMIM:608716
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 5, primary, autosomal recessive, OMIM:608716
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 5, primary, autosomal recessive, OMIM:608716
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 5, primary, autosomal recessive, OMIM:608716