Genomics England

IER3IP1

immediate early response 3 interacting protein 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Diabetes - neonatal onset R-numbers: R143 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy and diabetes syndrome, OMIM:614231
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 2.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy, and diabetes syndrome 614231
Green in Genetic epilepsy syndromes R-numbers: R59 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS, Intellectual disability
Green in Paediatric disorders - additional genes Component of the following Super Panels: - Paediatric disorders Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS
Green in Severe microcephaly R-numbers: R88 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, Microcephaly (-3 to -9 SD)