Hydrocephalus
Gene: SUMF1
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
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
Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency 272200 to Multiple sulfatase deficiency, OMIM:272200
Source NHS GMS was added to SUMF1.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
Phenotypes for SUMF1 were set to Multiple sulfatase deficiency 272200
This gene has been classified as Green List (High Evidence).
SUMF1 was added to Hydrocephaluspanel. Source: Expert Review Amber
SUMF1 was created by helen.brittain
SUMF1 was added to Hydrocephaluspanel. Sources: Literature