Likely inborn error of metabolism - targeted testing not possible
Gene: MSMO1
21285510 (1 affected- 2 variants, 24144731 (1 affected- 1 variant), 24144731 4 affecteds (2 unrelated previously reported, and 2 new related affected cases). On Radboud METABOLIC DISORDERS panelCreated: 23 Feb 2017, 5:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834; (SC4MOL DEFICIENCY)
Publications
Phenotypes for gene: MSMO1 were changed from Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); (SC4MOL DEFICIENCY); Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 to 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
Source NHS GMS was added to MSMO1. Source London North GLH was added to MSMO1.
Ellen McDonagh: Comment on mode of pathogenici
gene: MSMO1 was added gene: MSMO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSMO1 were set to 27604308 Phenotypes for gene: MSMO1 were set to Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); (SC4MOL DEFICIENCY); Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834