Childhood onset hereditary spastic paraplegia
Gene: GPT2The 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
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
Paediatric onset spastic paraglegia is a prominent feature of the condition, >3 unrelated families reported.
Sources: Expert listCreated: 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
Tag Q4_21_rating was removed from gene: GPT2.
Source Expert Review Green was added to GPT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: GPT2 were set to 29882329; 31471722; 27601654
Tag Q4_21_rating tag was added to gene: GPT2.
Gene: gpt2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: GPT2 were changed from Mental retardation, autosomal recessive 49 MIM#616281 to Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281
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