DDG2P
Gene: GTPBP1

GTPBP1 (GTP binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000100226
EnsemblGeneIds (GRCh37): ENSG00000100226
OMIM: 602245, Gene2Phenotype
GTPBP1 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features. is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 38118446).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features.

Publications

38118446

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features.

OMIM

602245

Clinvar variants

Variants in GTPBP1

Penetrance

None

Publications

38118446

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GTPBP1 was added gene: GTPBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP1 were set to 38118446 Phenotypes for gene: GTPBP1 were set to GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features.

DDG2P Gene: GTPBP1