KIF14

kinesin family member 14
OMIM: 611279
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe microcephaly and short stature
R-numbers: R21, R412
Signed-off version 4.0
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 20, primary, autosomal recessive, OMIM:617914, Microcephaly 20, primary, autosomal recessive, MONDO:0054761
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 20, primary, autosomal recessive, OMIM:617914, Microcephaly 20, primary, autosomal recessive, MONDO:0054761