Fetal hydrops
Gene: SUMF1EnsemblGeneIds (GRCh38): ENSG00000144455
EnsemblGeneIds (GRCh37): ENSG00000144455
OMIM: 607939, Gene2Phenotype
SUMF1 is in 14 panels
1 review
Rebecca Foulger (Genomics England curator)
SUMF1 is on the NGS Non-immune Hydrops Panel for Greenwood Genetic centre: http://www.ggc.org/images/NGS_Hydrops_Panel_Genes_and_Conditions.pdf.Created: 21 Dec 2016, 11:40 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Phenotypes
-
- Multiple sulfatase deficiency, 272200
- OMIM
- 607939
- Clinvar variants
- Variants in SUMF1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Fetal hydrops
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Hydrocephalus
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Created
Rebecca Foulger (Genomics England curator)SUMF1 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)SUMF1 was added to Fetal hydropspanel. Sources: Other