Genes in panel
STRs in panel
Prev Next

Severe microcephaly

Gene: GPT2

Amber List (moderate evidence)

GPT2 (glutamic--pyruvic transaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000166123
EnsemblGeneIds (GRCh37): ENSG00000166123
OMIM: 138210, Gene2Phenotype
GPT2 is in 4 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at then next GMS panel update.
Created: 23 Nov 2021, 3:58 p.m. | Last Modified: 23 Nov 2021, 3:58 p.m.
Panel Version: 2.274
Microcephaly is a prominent features of the neurodevelopmental disorder associated with biallelic variants in the GPT2 gene. Mostly all patients are to some degree microcephalic but at least 6 unrelated families (out of 11 total) have been reported with microcephaly of relevant severity to this panel (≥ -3SD). This gene is associated with a relevant phenotype in OMIM (OMIM:616281) but is not yet listed in G2P.
Sources: Literature
Created: 23 Nov 2021, 3:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281
Tags
Q4_21_rating
OMIM
138210
Clinvar variants
Variants in GPT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gpt2 has been classified as Amber List (Moderate Evidence).

23 Nov 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: GPT2 was added gene: GPT2 was added to Severe microcephaly. Sources: Literature Q4_21_rating tags were added to gene: GPT2. Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPT2 were set to 25758935; 27601654; 29226631; 29882329; 31471722 Phenotypes for gene: GPT2 were set to Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281 Review for gene: GPT2 was set to GREEN