KIF14

kinesin family member 14
OMIM: 611279, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green KIF14 in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, OMIM #617914
  • ?Meckel syndrome 12, OMIM #616258

Red KIF14 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Microcephaly 20, primary, MIM#617914

Green KIF14 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, MIM# 617914
  • Meckel syndrome 12, MIM# 616258

Green KIF14 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, MIM# 617914

Red KIF14 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.0

1 review Unknown
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0

Green KIF14 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green KIF14 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, MIM# 617914
  • Meckel syndrome 12, MIM# 616258

Green KIF14 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, 617914 (3)

Green KIF14 in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
  • Microcephaly 20, primary, autosomal recessive, OMIM:617914
  • Meckel syndrome 12, OMIM:616258
  • Microcephaly 20, primary, autosomal recessive, MONDO:0054761

Green KIF14 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, MIM #617914

Red KIF14 in Infertility and Recurrent Pregnancy Loss


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Meckel syndrome 12, MIM# 616258