Genomics England

IER3IP1

immediate early response 3 interacting protein 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy, and diabetes syndrome 614231
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS, Intellectual disability
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS
Green in Neonatal diabetes R-numbers: R143 Signed-off version 6.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy and diabetes syndrome, OMIM:614231
Green in Paediatric disorders - additional genes Component of the following Super Panels: - Paediatric disorders Signed-off version 8.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS
Green in Severe microcephaly R-numbers: R88 Signed-off version 9.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, Microcephaly (-3 to -9 SD)