Rare multisystem ciliopathy disorders
Gene: KIF14Comment when marking as ready: Only reported in one familyCreated: 25 Jan 2017, 1:18 p.m.
Only one reported family, with two affected individuals. Compound heterozygous frameshift/premature stop and nonsense mutations. Mutations segregate with disease in compound heterozygous pattern. Mutations not found in any variant database checked.
Created: 5 Jul 2016, 2:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intrauterine growth restriction (IUGR); microcephaly; renal cystic dysplasia/agenesis; complex brain malformation; genitourinary malformation
Publications
Phenotypes for gene: KIF14 were changed from intrauterine growth restriction (IUGR); microcephaly; renal cystic dysplasia/agenesis; complex brain malformation; genitourinary malformation; ?Meckel syndrome 12, 616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; ?Meckel syndrome 12 to Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Red List (Low Evidence).
KIF14 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
KIF14 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
KIF14 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene KIF14 were set to intrauterine growth restriction (IUGR);microcephaly;renal cystic dysplasia/agenesis;complex brain malformation;genitourinary malformation;?Meckel syndrome 12, 616258
Phenotypes for KIF14 were set to intrauterine growth restriction (IUGR); microcephaly; renal cystic dysplasia/agenesis; complex brain malformation; genitourinary malformation
Publications for KIF14 were set to 24128419
Mode of inheritance for KIF14 was changed to BIALLELIC, autosomal or pseudoautosomal
KIF14 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
KIF14 was created by ellenmcdonagh