SUMF1

sulfatase modifying factor 1
OMIM: 607939, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SUMF1 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green SUMF1 in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Multiple sulfatase deficiency MIM#272200 neurologic deterioration with mental retardation skeletal anomalies organomegaly ichthyosis
Green SUMF1 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Multiple sulfatase deficiency (MIM#272200)
Green SUMF1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green SUMF1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Emory Genetics Laboratory Expert list NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Expert Review Green Phenotypes Multiple sulfatase deficiency 272200
Green SUMF1 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Multiple sulfatase deficiency
Green SUMF1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Multiple sulfatase deficiency, 272200 (3)
Green SUMF1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Multiple sulfatase deficiency, MIM#272200
Green SUMF1 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Multiple sulfatase deficiency, MIM#272200