Genomics England

VPS13B

vacuolar protein sorting 13 homolog B

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COHEN SYNDROME 193538
Green in Fetal anomalies R-numbers: R21 Signed-off version 1.92	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COHEN SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cohen syndrome, 216550, COHEN 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 1.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cohen syndrome, 216550, COHEN SYNDROME
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 1.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cohen syndrome, 216550, COHEN SYNDROME
Green in Primary immunodeficiency R-numbers: R15 Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cohen syndrome, 216550, Cohen syndrome, Dysmorphism, mental retardation, obesity, deafness, neutropenia, Congenital defects of phagocyte number or function
Green in Retinal disorders R-numbers: R32, R33, R34, R35 Signed-off version 2.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Genetic Retinal Degeneration Conditions
Green in Severe early-onset obesity R-numbers: R149 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Obesity, Cohen syndrome, 216550, Cohen syndrome, Truncal obesity developing in mid-childhood