Lysosomal storage disorder

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

1 review

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency 272200 to Multiple sulfatase deficiency OMIM:272200; mucosulfatidosis MONDO:0010088

13 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SUMF1 was added gene: SUMF1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency 272200