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Mitochondrial disorders v1.417 IER3IP1 Sarah Leigh Classified gene: IER3IP1 as Red List (low evidence)
Mitochondrial disorders v1.417 IER3IP1 Sarah Leigh Added comment: 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.
Mitochondrial disorders v1.417 IER3IP1 Sarah Leigh Gene: ier3ip1 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.388 IER3IP1 Anna de Burca reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, 614231; Mode of inheritance:
Mitochondrial disorders v1.384 IER3IP1 Carl Fratter reviewed gene: IER3IP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, 614231; Mode of inheritance:
Mitochondrial disorders IER3IP1 Zornitza Stark reviewed gene: IER3IP1
Mitochondrial disorders IER3IP1 Louise Daugherty classified IER3IP1 as Green List (high evidence)
Mitochondrial disorders IER3IP1 Louise Daugherty Added gene to panel