Inherited white matter disorders

Gene: SUMF1

Green List (high evidence)

SUMF1 (sulfatase modifying factor 1)
EnsemblGeneIds (GRCh38): ENSG00000144455
EnsemblGeneIds (GRCh37): ENSG00000144455
OMIM: 607939, Gene2Phenotype
SUMF1 is in 14 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_628

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Multiple sulfatase deficiency
OMIM
607939
Clinvar variants
Variants in SUMF1
Penetrance
Complete
Publications
  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_628
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

25 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SUMF1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy;Multiple sulfatase deficiency

25 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Aug 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

SUMF1 was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

SUMF1 was created by [email protected]