Genomics England

kinesin family member 14

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Severe microcephaly and short stature
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM:617914, Microcephaly 20, primary, autosomal recessive, MONDO:0054761, Meckel syndrome 12, OMIM:616258, Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
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 20, primary, autosomal recessive, OMIM:617914, Microcephaly 20, primary, autosomal recessive, MONDO:0054761
Green in Severe microcephaly R-numbers: R88 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM:617914, Microcephaly 20, primary, autosomal recessive, MONDO:0054761