Genomics England

MSMO1

methylsterol monooxygenase 1

Panel	Mode of inheritance	Details
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Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis), Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793