Hyperammonaemia
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
2 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 607939
- Clinvar variants
- Variants in SUMF1
- Penetrance
- Complete
- 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
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SUMF1 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory