Severe microcephaly
Gene: GPT2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Comment on list classification: There is sufficient evidence to promote this gene to Green at then next GMS panel update.Created: 23 Nov 2021, 3:58 p.m. | Last Modified: 23 Nov 2021, 3:58 p.m.
Panel Version: 2.274
Microcephaly is a prominent features of the neurodevelopmental disorder associated with biallelic variants in the GPT2 gene. Mostly all patients are to some degree microcephalic but at least 6 unrelated families (out of 11 total) have been reported with microcephaly of relevant severity to this panel (≥ -3SD). This gene is associated with a relevant phenotype in OMIM (OMIM:616281) but is not yet listed in G2P.
Sources: LiteratureCreated: 23 Nov 2021, 3:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281
Publications
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)
Gene: gpt2 has been classified as Amber List (Moderate Evidence).
gene: GPT2 was added gene: GPT2 was added to Severe microcephaly. Sources: Literature Q4_21_rating tags were added to gene: GPT2. Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPT2 were set to 25758935; 27601654; 29226631; 29882329; 31471722 Phenotypes for gene: GPT2 were set to Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281 Review for gene: GPT2 was set to GREEN