Genomics England

kinetochore scaffold 1

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	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 8.0	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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 4, primary, autosomal recessive, OMIM:604321, Microcephaly 4, primary, autosomal recessive, MONDO:0011437