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  3. GPT2
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Microcephaly

Gene: GPT2

Green List (high evidence)
GPT2 (glutamic--pyruvic transaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000166123
EnsemblGeneIds (GRCh37): ENSG00000166123
OMIM: 138210, Gene2Phenotype
GPT2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two missense and 1 truncating variants reported, in 3 unrelated consanguineous families with intellectual and developmental disabilities and microcephaly. Functional studies showed loss of enzyme activity.
Sources: Expert list
Created: 11 Mar 2020, 9:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281

Publications

Created: 11 Mar 2020, 9:30 a.m.

Panel version: 1.244

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
OMIM
138210
Clinvar variants
Variants in GPT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GPT2 were changed from Mental retardation, autosomal recessive 49, MIM#616281 to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281

11 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gpt2 has been classified as Green List (High Evidence).

11 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gpt2 has been classified as Green List (High Evidence).

11 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GPT2 was added gene: GPT2 was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPT2 were set to 27601654; 25758935 Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49, MIM#616281 Review for gene: GPT2 was set to GREEN