EBP

EBP cholestenol delta-isomerase
OMIM: 300205, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green EBP in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	Unknown	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green EBP in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Green EBP in Cataract Level 2: Ophthalmological disorders Version 1.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Chondrodysplasia punctata, X-linked dominant, MIM# 302960 MEND syndrome, MIM# 300960
Red EBP in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes MEND syndrome, MIM#300960
Red EBP in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	Other	Sources Expert Review Red Expert list Phenotypes Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Green EBP in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome
Green EBP in Mendeliome Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome MEND syndrome, MIM#300960
Green EBP in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 1.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Chondrodysplasia punctata, X-linked dominant 302960
Amber EBP in Peroxisomal Disorders Level 2: Metabolic disorders Version 1.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Expert Review Phenotypes Chondrodysplasia punctata, X-linked dominant (MIM#302960)
Green EBP in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green
Green EBP in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green EBP in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Phenotypes Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome MEND syndrome, MIM#300960 Tags somatic
Green EBP in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS UKGTN Victorian Clinical Genetics Services Phenotypes MEND syndrome CDPXLD MEND syndrome-300960 XLR. X-linked dominant chondrodysplasia punctata Chondrodysplasia punctata, X-linked dominant, 302960
Green EBP in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MEND SYNDROME MEND
Green EBP in Fetal anomalies Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome MEND syndrome, MIM#300960