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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

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Neurodevelopmental disorder with spastic paraplegia and microcephaly (NEDSPM) is characterized by delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech. More severely affected individuals show poor overall growth with progressive microcephaly, axial hypotonia, oromotor dysfunction with drooling, joint contractures, and spastic paraplegia resulting in walking difficulties. Some patients may develop seizures; nonspecific dysmorphic features have also been reported.
Described in >5 unrelated families.
Recurrent p.R404* mutation in Pakistani families.
Created: 28 Nov 2024, 4:23 a.m. | Last Modified: 28 Nov 2024, 4:23 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 28 Nov 2024, 4:23 a.m.
Last Modified: 28 Nov 2024, 4:23 a.m.
Panel version: 1.633

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

12 Dec 2024, 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).

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GPT2 were set to

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, 616281 (3) to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GPT2 was added gene: GPT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49, 616281 (3)