Hereditary spastic paraplegia - childhood onset

Gene: GPT2

Green List (high evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Created: 14 Mar 2022, 1:30 p.m. | Last Modified: 14 Mar 2022, 1:30 p.m.
Panel Version: 2.130

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green at the next GMS panel update. Spastic paraplegia is a frequently reported sign which develops later in the course of disease but is often severe. As this is a prominent feature of the condition there is value in including GPT2 on this panel. This gene is associated with a relevant phenotype in OMIM (OMIM:616281) but is not yet listed in G2P.
Created: 23 Nov 2021, 3:22 p.m. | Last Modified: 23 Nov 2021, 3:22 p.m.
Panel Version: 2.110

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
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281
OMIM
138210
Clinvar variants
Variants in GPT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating was removed from gene: GPT2.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to GPT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Nov 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: GPT2 were set to 29882329; 31471722; 27601654

23 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: GPT2.

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: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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