Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Paediatric disorders - additional genes v0.19 | IER3IP1 | Rebecca Foulger Classified gene: IER3IP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.19 | IER3IP1 | Rebecca Foulger Gene: ier3ip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.18 | IER3IP1 |
Rebecca Foulger gene: IER3IP1 was added gene: IER3IP1 was added to Paediatric disorders - additional genes. 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; MEDS Added comment: Added to 'Paediatric disorders - additional genes' panel on recommendation of Genomics England clinical team, to allow demotion of gene rating on the 'Mitochondrial disorders' panel. Sources: Other |