Cerebellar hypoplasia

Gene: GMPPB

Green List (high evidence)

GMPPB (GDP-mannose pyrophosphorylase B)
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 20 panels

1 review

Alice Gardham (Genomics England)

I don't know

Recognised on G2P and offered as diagnostic test on UKGTN
Created: 16 Nov 2016, 10:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350

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 GMPPB were set to 23768512

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for GMPPB 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).

16 Nov 2016, Gel status: 2

Upload gene information

Alice Gardham (Genomics England)

GMPPB was added to Cerebellar hypoplasiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Literature

14 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GMPPB was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen

14 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GMPPB was created by ellenmcdonagh