1. Panels
  2. Prepair 1000+
  3. GMPPB
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: GMPPB

Green List (high evidence)
GMPPB (GDP-mannose pyrophosphorylase B)
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352

Created: 13 Sep 2024, 6:17 a.m.
Last Modified: 13 Sep 2024, 6:17 a.m.
Panel version: 1.298

Lauren Rogers (Victorian Clinical Genetics Services)

Well established gene-disease association.

Can present from birth to early childhood, characterised by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.

Type A14 is more severe than type B14 and type C14.
Created: 13 Sep 2024, 1:46 a.m. | Last Modified: 13 Sep 2024, 1:46 a.m.
Panel Version: 1.287

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352

Publications

Created: 13 Sep 2024, 1:46 a.m.
Last Modified: 13 Sep 2024, 1:46 a.m.
Panel version: 1.287

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
OMIM
615320
Clinvar variants
Variants in GMPPB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gmppb has been classified as Green List (High Evidence).

13 Sep 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352

13 Sep 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GMPPB were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GMPPB was added gene: GMPPB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)