Hydrocephalus
Gene: SUMF1EnsemblGeneIds (GRCh38): ENSG00000144455
EnsemblGeneIds (GRCh37): ENSG00000144455
OMIM: 607939, Gene2Phenotype
SUMF1 is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Comment on list classification: Discussed with Richard Scott - considered appropriate for inclusionCreated: 22 May 2017, 2:59 p.m.
Several cases reported. Hydrocephalus or dilated ventricles is described, however there are later childhood onset forms reported. Discussion needed with clinical teamCreated: 9 May 2017, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Multiple sulfatase deficiency, OMIM: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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency 272200 to Multiple sulfatase deficiency, OMIM:272200
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SUMF1.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for SUMF1 were set to Multiple sulfatase deficiency 272200
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SUMF1 was added to Hydrocephaluspanel. Source: Expert Review Amber
Created
Helen Brittain (Genomics England Curator)SUMF1 was created by helen.brittain
Added New Source
Helen Brittain (Genomics England Curator)SUMF1 was added to Hydrocephaluspanel. Sources: Literature