Inherited white matter disorders
Gene: SUMF1Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for SULFATIDOSIS, JUVENILE, AUSTIN TYPE, more than 3 unrelated cases with different variants reported in OMIM for Multiple sulfatase deficiency. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Multiple sulfatase deficiency.Created: 25 Aug 2016, 1:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for SUMF1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy;Multiple sulfatase deficiency
This gene has been classified as Green List (High Evidence).
This gene has been removed from the panel.
SUMF1 was added to Inherited white matter disorderspanel. Sources: Expert list
SUMF1 was created by [email protected]