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Intellectual disability

Gene: GPT2

Green List (high evidence)

GPT2 (glutamic--pyruvic transaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000166123
EnsemblGeneIds (GRCh37): ENSG00000166123
OMIM: 138210, Gene2Phenotype
GPT2 is in 1 panel

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review
Phenotypes
  • Microcephaly
  • Mental retardation, autosomal recessive 49, 138210
  • Intellectual disability
  • Progressive spasticity
OMIM
138210
Clinvar variants
Variants in GPT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

12 Aug 2018, Gel status: 0

Created

Konstantinos Varvagiannis (Other)

GPT2 was created by Konstantinos Varvagiannis