Genomics England

KIF7

kinesin family member 7

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ACROCALLOSAL SYNDROME, ACLS
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ACROCALLOSAL SYNDROME 200990, AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION, ACROCALLOSAL SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hydrolethalus syndrome 2, 614120Acrocallosal syndrome, 200990Joubert syndrome 12, 200990, ACROCALLOSAL SYNDROME
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 12 200990, Acrocallosal syndrome 200990
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 12 200990, Acrocallosal syndrome 200990
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel - Unexplained young onset end-stage renal disease Signed-off version 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 12 200990, Acrocallosal syndrome 200990
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 12 200990, Acrocallosal syndrome 200990, Al-Gazali-Bakalinova syndrome 607131, Hydrolethalus syndrome 2 614120