Genomics England

CUL4B

cullin 4B

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE 300354
Green in Differences in sex development R-numbers: R146 Signed-off version 4.5	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354, XLMR with Short Stature, Small Testes, Muscle Wasting, and Tremor
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 7.54	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354, seizures
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE
Green in Hypogonadotropic hypogonadism (GMS) R-numbers: R148 Signed-off version 3.25	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Syndromic X-linked mental retardation (OMIM 300354)
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354, MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE (MRXC)