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Intellectual disability syndromic and non-syndromic

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Definitive by ClinGen on 13/08/2024 - https://search.clinicalgenome.org/CCID:004972

There is phenotypic variability in this gene-disease association with the most severely affected individuals having ID however three patients have been reported without any developmental phenotypes (seems to be associated with the less severe phenotype). LoF is the mechanism of disease
Created: 17 Sep 2024, 4:09 a.m. | Last Modified: 17 Sep 2024, 4:09 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myopathy caused by variation in GMPPB MONDO:0700084

Publications

History Filter Activity

14 Nov 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).

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GMPPB were changed from to myopathy caused by variation in GMPPB MONDO:0700084

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GMPPB were set to

14 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GMPPB was added gene: GMPPB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GMPPB was set to Unknown