Cerebellar hypoplasia

Gene: POMGNT2

Green List (high evidence)

POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-))
EnsemblGeneIds (GRCh38): ENSG00000144647
EnsemblGeneIds (GRCh37): ENSG00000144647
OMIM: 614828, Gene2Phenotype
POMGNT2 is in 18 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830

Publications

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

19 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for POMGNT2 were set to 22958903

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for POMGNT2 was changed to BIALLELIC, autosomal or pseudoautosomal

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

14 Nov 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

POMGNT2 was added to Cerebellar hypoplasiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

14 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POMGNT2 was created by ellenmcdonagh