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BabyScreen+ newborn screening

Gene: GOT2

Green List (high evidence)
GOT2 (glutamic-oxaloacetic transaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000125166
EnsemblGeneIds (GRCh37): ENSG00000125166
OMIM: 138150, Gene2Phenotype
GOT2 is in 4 panels

2 reviews

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

Neonatal onset and severe

Mitochondrial aspartate aminotransferase deficiency is an autosomal recessive mitochondriopathy that manifest as early-onset metabolic epileptic encephalopathy.

Brain imaging shows cerebral atrophy, thin corpus callosum, cerebellar hypoplasia, and white matter abnormalities.

Laboratory studies show increased serum lactate and ammonia.

Importantly, treatment with combined pyridoxine and serine can result in significant improvement in seizures as well as some mild developmental progress.
Created: 4 Dec 2022, 5:06 a.m. | Last Modified: 4 Dec 2022, 5:06 a.m.
Panel Version: 0.1154

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neonatal hypotonia; feeding difficulties; global developmental delay; severe ID; infantile seizures; absent speech; spastic tetraplegia; microcephaly

Publications

Created: 4 Dec 2022, 5:06 a.m.
Last Modified: 4 Dec 2022, 5:06 a.m.
Panel version: 0.1154

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four individuals from three unrelated families reported.

Onset in infancy.

Treatment: Vitamin B6 (pyridoxine) and serine
Created: 29 Nov 2022, 7:44 a.m. | Last Modified: 29 Nov 2022, 7:44 a.m.
Panel Version: 0.1131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 82, MIM# 618721

Created: 29 Nov 2022, 7:44 a.m.
Last Modified: 29 Nov 2022, 7:44 a.m.
Panel version: 0.1131

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Developmental and epileptic encephalopathy 82, MIM# 618721
Tags
treatable neurological
OMIM
138150
Clinvar variants
Variants in GOT2
Penetrance
None
Panels with this gene

History Filter Activity

29 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: got2 has been classified as Green List (High Evidence).

29 Nov 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: GOT2. Tag neurological tag was added to gene: GOT2.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GOT2 was added gene: GOT2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GOT2 were set to Developmental and epileptic encephalopathy 82, MIM# 618721