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Intellectual disability

Gene: GTPBP1

Amber List (moderate evidence)
GTPBP1 (GTP binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000100226
EnsemblGeneIds (GRCh37): ENSG00000100226
OMIM: 602245, Gene2Phenotype
GTPBP1 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are three unrelated patients reported with biallelic GTPBP1 variants and with neurodevelopmental impairment. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 29 Jul 2026, 3:34 p.m. | Last Modified: 29 Jul 2026, 3:34 p.m.
Panel Version: 10.79
PMID:38118446 (2024) reported a cohort of 20 individuals from 16 families with distinct neurodevelopmental disorders (NDDs) and syndromic facial features and identified with biallelic variants in either GTPBP1 or GTPBP2 genes. Of these, four patients from three unrelated families were identified with homozygous variants in GTPBP1 gene. Two families have different NMD-predicted nonsense variants and the third has a missense variant, and all are absent from gnomad v4.1.1.

The shared clinical features of the syndrome include microcephaly, severe/ profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. In addition, abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome.

Severe/ profound neurodevelopmental impairment was present in 3 patients from 3 families with GTPBP1 variants.

This gene has been associated with relevant phenotypes in OMIM (MIM #620888, last accessed 29 July 2026) and in Gene2Phenotype ('moderate' rating on the DD panel).
Sources: Literature
Created: 29 Jul 2026, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888; neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MONDO:0975745

Publications

Created: 29 Jul 2026, 3:32 p.m.

Panel version: 10.78

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888
  • neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MONDO:0975745
Tags
Q3_26_promote_green
OMIM
602245
Clinvar variants
Variants in GTPBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2026, Gel status: 2

Removed Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: GTPBP1. Tag Q3_26_promote_green tag was added to gene: GTPBP1.

29 Jul 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: gtpbp1 has been classified as Amber List (Moderate Evidence).

29 Jul 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: GTPBP1.

29 Jul 2026, Gel status: 1

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 Intellectual disability. Sources: Literature 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 Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888; neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MONDO:0975745 Review for gene: GTPBP1 was set to GREEN