KNL1

kinetochore scaffold 1
OMIM: 609173
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 4, primary, autosomal recessive, OMIM:604321, Microcephaly 4, primary, autosomal recessive, MONDO:0011437
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 4, primary, autosomal recessive, OMIM:604321, Microcephaly 4, primary, autosomal recessive, MONDO:0011437
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 4, primary, autosomal recessive, OMIM:604321, Microcephaly 4, primary, autosomal recessive, MONDO:0011437