Hydrocephalus

Gene: POMGNT1

Green List (high evidence)

POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))
EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 18 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)

Green List (high evidence)

Sufficient cases for causation and hydrocephalus or ventricular dilatation is a common feature
Created: 9 May 2017, 1:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3

Publications

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to POMGNT1.

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.

30 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: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

POMGNT1 was added to Hydrocephaluspanel. Source: Expert Review Green

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

POMGNT1 was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

POMGNT1 was added to Hydrocephaluspanel. Sources: Literature