KIF14

kinesin family member 14
OMIM: 611279, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red KIF14 in Familial Neural Tube Defects Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes Meckel syndrome 12, OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Red KIF14 in Ductal plate malformation Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes Meckel syndrome 12, OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Red KIF14 in Autism Version 0.36	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red SFARI
Green KIF14 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.7 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM:617914 Microcephaly 20, primary, autosomal recessive, MONDO:0054761
Green KIF14 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 KIF14 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Severe microcephaly and short stature
Green KIF14 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.11 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM:617914 Microcephaly 20, primary, autosomal recessive, MONDO:0054761
Red KIF14 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.172	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Orphanet Radboud University Medical Center, Nijmegen Expert list Phenotypes Meckel syndrome 12, OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Red KIF14 in Neurological ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 4.1 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Meckel syndrome 12, OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Amber KIF14 in Renal ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 3.6 Latest signed off version: v3.5 (1 May 2024) Component of the following Super Panels: Cystic renal disease Paediatric disorders Rare multisystem ciliopathy Super panel Renal superpanel - broad Renal superpanel - narrow	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Orphanet Expert list Radboud University Medical Center, Nijmegen Other Phenotypes Meckel syndrome 12, OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 Tags watchlist
Green KIF14 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list 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