MSMO1

methylsterol monooxygenase 1
OMIM: 607545, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green MSMO1 in Cataract Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 MONDO:0014793
Amber MSMO1 in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834) MONDO:0014793
Green MSMO1 in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834 MONDO:0014793 Disorders of the metabolism of sterols
Green MSMO1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834 MONDO:0014793
Green MSMO1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834 MONDO:0014793
Green MSMO1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 Disorders of the metabolism of sterols MONDO:0014793
Green MSMO1 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Genetic Health Queensland Phenotypes Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834