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Intellectual disability
Gene: GPT2

GPT2 (glutamic--pyruvic transaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000166123
EnsemblGeneIds (GRCh37): ENSG00000166123
OMIM: 138210, Gene2Phenotype
GPT2 is in 3 panels

2 reviews

Catherine Snow (Genomics England)

Comment on list classification: GPT2 was added to the ID panel and rated Green by Konstantinos Varvagiannis.

PMID 25758935 describes 3 siblings, born to distantly consanguineous parents, with severe ID.
PMID 27601654 reports 14 individuals, from 2 large consanguineous kindreds, presenting with intellectual disability, postnatal microcephaly and variable progressive spasticity. Affected individuals from the first family were homozygous for a nonsense variant, while individuals from the second family were homozygous for a missense one.
PMID 28130718 describes 4 individuals all from the same consanguineous family, with severe ID and homozygous for a missense GPT2 variant.

GPT2 is in OMIM but not in G2P. Overall sufficient (>3) unrelated cases of ID in patients with GPT2 variants, for inclusion on ID panel.
Created: 21 May 2019, 12:21 p.m.

Created: 21 May 2019, 12:21 p.m.

Panel version: Imported from Intellectual disability update May 2019 panel version 0.48

Konstantinos Varvagiannis (Other)

Green List (high evidence)

PMID 25758935 describes 3 siblings, born to distantly consanguineous parents, with severe ID. All were homozygous for a missense variant in GPT2. Functional assays demonstrated loss of enzymatic function. PMID 27601654 reports 14 individuals, from 2 large consanguineous kindreds, presenting with intellectual disability, postnatal microcephaly and variable progressive spasticity. Affected individuals from the first family were homozygous for a nonsense variant, while individuals from the second family were homozygous for a missense one. Biochemical studies demonstrated loss of function. PMID 28130718 describes 4 individuals with non-syndromic severe intellectual disability, all from the same consanguineous family and homozygous for a missense GPT2 variant. Intellectual disability, microcephaly and variable progressive motor symptoms were the main features in additional individuals, compound heterozygous for GPT2 missense variants in PMID 29226631.
Created: 12 Aug 2018, 1:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; Microcephaly; Progressive spasticity

Publications

Created: 12 Aug 2018, 1:43 a.m.

Panel version: 2.361

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review
Expert Review Green
Expert Review

Phenotypes

Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281

OMIM

138210

Clinvar variants

Variants in GPT2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

23 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GPT2 were changed from Microcephaly; Mental retardation, autosomal recessive 49, 138210; Intellectual disability; Progressive spasticity to Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281

25 Jul 2019, Gel status: 3

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to GPT2. Source Expert Review was added to GPT2. Added phenotypes Mental retardation, autosomal recessive 49, 138210 for gene: GPT2 Publications for gene GPT2 were changed from PMID: 25758935; 27601654; 28130718; 29226631 to 27601654; 28130718; 29226631; 25758935 Rating Changed from No List (delete) to Green List (high evidence)

12 Aug 2018, Gel status: 0

Added New Source

Konstantinos Varvagiannis (Other)

GPT2 was added to Intellectual disability panel. Sources: Literature