Genomics England

kinetochore scaffold 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MONDO:0011437, KNL1-related primary microcephaly, OMIM:604321.0
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 4, primary, autosomal recessive, OMIM:604321, Microcephaly 4, primary, autosomal recessive, MONDO:0011437
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 4, primary, autosomal recessive, OMIM:604321, Microcephaly 4, primary, autosomal recessive, MONDO:0011437
Green in Severe microcephaly R-numbers: R88 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 4, primary, autosomal recessive, OMIM:604321, Microcephaly 4, primary, autosomal recessive, MONDO:0011437