Hereditary spastic paraplegia - childhood onset

Gene: GPT2

No list

GPT2 (glutamic--pyruvic transaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000166123
EnsemblGeneIds (GRCh37): ENSG00000166123
OMIM: 138210, Gene2Phenotype
GPT2 is in 3 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Paediatric onset spastic paraglegia is a prominent feature of the condition, >3 unrelated families reported.
Sources: Expert list
Created: 19 Sep 2020, 7:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 49 MIM#616281

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Mental retardation, autosomal recessive 49 MIM#616281
OMIM
138210
Clinvar variants
Variants in GPT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: GPT2 was added gene: GPT2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPT2 were set to 29882329; 31471722; 27601654 Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49 MIM#616281 Review for gene: GPT2 was set to GREEN gene: GPT2 was marked as current diagnostic