SLC2A1 - potential candidate gene for genotype phenotype correlation

[ielis]

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder is a paper with potential genotype-phenotype correlations between missense vs nonsense variants in SLC2A1.

The authors of suggest presence of three different phenotypes in their cohort of 57 patients with SLC2A1 mutations:

• the classical phenotype (84%), further divided into
  • early-onset (<2 years) (65%)
  • late-onset (18%)
• a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%)
• one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms

The data is present in several tables:

Table 1 includes HGVS mutations, links the mutations to patients and assigns the phenotype group.

Table 2 describes 36 subjects with the classical phenotype

Table 3 describes 8 patients with the non-classical phenotype

Perhaps this can be useful for GPC?

[pnrobinson]

I do not think we can easily use this paper because the authors summarize the phenotypes into their own groups and this cannot be coded as HPO. We have enough other cohorts, so I am closing this.