Genomics England

MSMO1

methylsterol monooxygenase 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 8.5	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 8.0	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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 Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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 9.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793