Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: GMPPB

Green List (high evidence)

GMPPB (GDP-mannose pyrophosphorylase B)
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 18 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: Added publications from Sarah Leigh (Genomics England), 5 Mar 2018 review
Created: 14 Mar 2018, 11:41 a.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: There are sufficient cases for causation, with the majority presenting in infancy with hypotonia, delay, raised CK. The diagnosis may be made primarily through this route, however there is sufficient phenotypic overlap with this panel for inclusion.
Created: 6 Mar 2018, 4:59 p.m.

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least two variants reported in one case of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (615350)(associated with severe mental retardation), three in four cases of Muscular dystrophy-dystroglycanopathy (congenital with mental retardation)(associated with mild to severe mental retardation), type B, 14 (615351) and five in Muscular dystrophy-dystroglycanopathy (limb-girdle)(associated with mild mental retardation in some cases), type C, 14 615352.
Reported as a gene linked to isolated ID and ID associated disorders (Vissers 2016 PMID 26503795) and as an ID candidate gene (Gilessen 2014 PMID 24896178)
Created: 5 Mar 2018, 3:06 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Phenotypes
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known . Main mutation mechanism : All missense/in frame
Created: 27 Jul 2017, 6:20 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_red_20160217; neuro_20160418_strict; All missense/in frame. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Mode of pathogenicity
Other

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
OMIM
615320
Clinvar variants
Variants in GMPPB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Mar 2018, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GMPPB were set to 23768512; 26503795; 24896178; 25529582

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to GMPPB. Panel: Intellectual disability Model of inheritance for gene GMPPB was set to BIALLELIC, autosomal or pseudoautosomal

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GMPPB was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GMPPB was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen