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Likely inborn error of metabolism - targeted testing not possible v2.88 IER3IP1 Eleanor Williams Source: Expert Review Red was removed from gene: IER3IP1
Likely inborn error of metabolism - targeted testing not possible v1.278 IER3IP1 Sarah Leigh changed review comment from: Comment on list classification: IER3IP1 has been demoted to Red on the Mitochondrial disorders panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions, thus in the opinion of Helen Britain the phenotypes reported, the condition could initially present as a mimic of a mitochondrial presentation e.g. abnormal liver enzymes, diabetes, neurological dysfunction and therefore a green rating on metabolic panels would seem appropriate.; to: Comment on list classification: IER3IP1 has been demoted to Red on the Mitochondrial disorders panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions. Thus in the opinion of Helen Britain (Genomics England Clinical Fellow) the phenotypes reported could initially present as a mimic of a mitochondrial presentation e.g. abnormal liver enzymes, diabetes, neurological dysfunction and therefore a green rating on metabolic panels would seem appropriate.
Likely inborn error of metabolism - targeted testing not possible v1.278 IER3IP1 Sarah Leigh edited their review of gene: IER3IP1: Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v1.278 IER3IP1 Sarah Leigh changed review comment from: Comment on list classification: IER3IP1 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions.; to: Comment on list classification: IER3IP1 has been demoted to Red on the Mitochondrial disorders panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions, thus in the opinion of Helen Britain the phenotypes reported, the condition could initially present as a mimic of a mitochondrial presentation e.g. abnormal liver enzymes, diabetes, neurological dysfunction and therefore a green rating on metabolic panels would seem appropriate.
Likely inborn error of metabolism - targeted testing not possible v0.4 IER3IP1 Ellen McDonagh gene: IER3IP1 was added
gene: IER3IP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 24138066; 22991235; 21835305
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; MEDS