NSDHL

NAD(P) dependent steroid dehydrogenase-like
OMIM: 300275, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Amber NSDHL in Lissencephaly and Band Heterotopia Level 2: Neurology and neurodevelopmental disorders Version 1.19 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes CK syndrome 300831
Amber NSDHL in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.189 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes CK syndrome 300831
Green NSDHL in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	Unknown	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green NSDHL in Ichthyosis Level 2: Dermatological disorders Version 1.11	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 CHILD syndrome MIM#308050 Congenital hemidysplasia with ichthyosiform nevus and limb defects
Green NSDHL in Mendeliome Version 1.1902	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 NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes CHILD syndrome (MMIM#308050)
Green NSDHL in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	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 CHILD syndrome (MIM#308050)
Green NSDHL in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes CK syndrome (MIM#300831)
Green NSDHL in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes CK syndrome (MIM#300831)
Green NSDHL in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	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 NHS GMS UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Phenotypes CK syndrome 300831 Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
Green NSDHL in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes CK syndrome, 300831 (3)
Red NSDHL in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category C gene BabySeq Category A gene Phenotypes CHILD syndrome CK syndrome
Red NSDHL in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
Green NSDHL in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	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 NHS GMS Phenotypes CHILD syndrome MIM#308050 Disorders of sterol biosynthesis
Green NSDHL in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Expert Review Green NHS GMS Phenotypes CK syndrome 300831 Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
Green NSDHL in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes CK syndrome , MIM#300831
Green NSDHL in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes CK syndrome, 300831 (3)
Red NSDHL in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene BabySeq Category A gene Expert Review Red Phenotypes CHILD syndrome CK syndrome