CUL4B

cullin 4B
OMIM: 300304, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CUL4B in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.27	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354
Green CUL4B in Mendeliome Version 1.3795	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354
Green CUL4B in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.307 Component of the following Super Panels: Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
Green CUL4B in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.578	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CUL4B in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.600	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CUL4B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354
Green CUL4B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)
Green CUL4B in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.166	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Expert list Expert list Victorian Clinical Genetics Services Expert list Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354
Green CUL4B in Fetal anomalies Version 1.481	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354
Green CUL4B in Prepair 1000+ Level 2: Screening Version 2.15	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354
Green CUL4B in Prepair 500+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354
Green CUL4B in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.74	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert list Expert Review Green Expert Review Green Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354