Lysosomal Storage Disorder
Gene: SUMF1
SUMF1 (sulfatase modifying factor 1)
EnsemblGeneIds (GRCh38): ENSG00000144455
EnsemblGeneIds (GRCh37): ENSG00000144455
OMIM: 607939, Gene2Phenotype
SUMF1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000144455
EnsemblGeneIds (GRCh37): ENSG00000144455
OMIM: 607939, Gene2Phenotype
SUMF1 is in 14 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
>5 MSD patients reported. This condition is caused by defective activity of all sulfatases, most of them with lysosomal localization.
Sources: Expert ReviewCreated: 22 Jul 2020, 6:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency (MIM#272200)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Multiple sulfatase deficiency (MIM#272200)
- OMIM
- 607939
- Clinvar variants
- Variants in SUMF1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Ichthyosis
- Lysosomal Storage Disorder
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
History Filter Activity
22 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: sumf1 has been classified as Green List (High Evidence).
22 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: sumf1 has been classified as Green List (High Evidence).
22 Jul 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: SUMF1 was added gene: SUMF1 was added to Storage Disorder. Sources: Expert Review Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to 17360554; 25885655; 28566233 Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency (MIM#272200) Review for gene: SUMF1 was set to GREEN