Undiagnosed metabolic disorders
Gene: IER3IP1
On a further review of the phenotypes reported, this 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 this panel would seem appropriate.Created: 18 Sep 2019, 11:52 a.m. | Last Modified: 18 Sep 2019, 11:52 a.m.
Panel Version: 1.264
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231
Comment on list classification: Based on recommendation of Helen Britain (Clinical Fellow, Genomics England), that patients will present with features of microcephaly / neonatal diabetes / developmental delay, rather than metabolic disorder.Created: 8 Aug 2019, 5:15 p.m. | Last Modified: 8 Aug 2019, 5:15 p.m.
Panel Version: 1.127
Sources: OtherCreated: 8 Aug 2019, 5:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome 614231
Publications
Gene: ier3ip1 has been classified as Green List (High Evidence).
Gene: ier3ip1 has been classified as Green List (High Evidence).
Gene: ier3ip1 has been classified as Amber List (Moderate Evidence).
gene: IER3IP1 was added gene: IER3IP1 was added to Undiagnosed metabolic disorders. Sources: Other Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IER3IP1 were set to 21835305; 22991235; 24138066 Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome 614231 Review for gene: IER3IP1 was set to AMBER