Hydrocephalus

Gene: SUMF1

Green List (high evidence)

SUMF1 (sulfatase modifying factor 1)
EnsemblGeneIds (GRCh38): ENSG00000144455
EnsemblGeneIds (GRCh37): ENSG00000144455
OMIM: 607939, Gene2Phenotype
SUMF1 is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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)

I don't know

Comment on list classification: Discussed with Richard Scott - considered appropriate for inclusion
Created: 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 team
Created: 9 May 2017, 1:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple sulfatase deficiency

Publications

Details

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SUMF1.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for SUMF1 were set to Multiple sulfatase deficiency 272200

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SUMF1 was added to Hydrocephaluspanel. Source: Expert Review Amber

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

SUMF1 was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

SUMF1 was added to Hydrocephaluspanel. Sources: Literature