Malformations of cortical development

Gene: GMPPB

Red List (low evidence)

GMPPB (GDP-mannose pyrophosphorylase B)
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 17 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Only reported in one family
Created: 19 Dec 2016, 2:32 p.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

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

GMPPB was added to Malformations of cortical developmentpanel. Sources: Radboud University Medical Center, Nijmegen

19 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

GMPPB was created by agardham