Genomics England

DHCR7

7-dehydrocholesterol reductase

Panel	Mode of inheritance	Details
Filter panels14 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Smith-Lemli-Opitz syndrome
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SMITH-LEMLI-OPITZ SYNDROME, SLOS
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SMITH-LEMLI-OPITZ SYNDROME 270400
Green in Differences in sex development R-numbers: R146 Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN), Smith-Lemli-Opitz syndrome, 270400
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SMITH-LEMLI-OPITZ SYNDROME
Green in Holoprosencephaly - NOT chromosomal Component of the following Super Panels: - Cerebral malformation R-numbers: R85 Signed-off version 5.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Smith-Lemli-Opitz syndrome, 270400, alobar holoprosencephaly (HPE)
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Smith-Lemli-Opitz syndrome, 270400, SMITH-LEMLI-OPITZ SYNDROME (SLOS)
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 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Intellectual disability, IUGR and IGF abnormalities, Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis), Disorders of sex development, Cataracts
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Smith-Lemli-Opitz syndrome 270400
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel - Unexplained young onset end-stage renal disease Signed-off version 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Smith-Lemli-Opitz syndrome, OMIM:270400
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Smith-Lemli-Opitz syndrome 270400
Green in Skeletal ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 5.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Smith-Lemli-Opitz syndrome 270400
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Smith-Lemli-Opitz syndrome 270400
Green in Smith-Lemli-Opitz syndrome R-numbers: R270 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes