Genomics England

EBP

emopamil binding protein (sterol isomerase)

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Chondrodysplasia punctata, X-linked dominant, OMIM:302960
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 5.3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MEND SYNDROME, MEND
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes CHONDRODYSPLASIA PUNCTATA 2, X-LINKED 302960
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes CHONDRODYSPLASIA PUNCTATA 2, X-LINKED
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes CHONDRODYSPLASIA PUNCTATA 2, X-LINKED
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes MEND syndrome 300960 XLR, Chondrodysplasia punctata, X-linked dominant 302960 XLD, X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 5.4	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Polydactyly, Chondrodysplasia punctata, X-linked dominant 302960
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Conradi-Hunnermann-Happle syndrome
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes X-linked dominant chondrodysplasia punctata, CDPXLD, MEND syndrome, Chondrodysplasia punctata, X-linked dominant, 302960, MEND syndrome-300960 XLR.