IER3IP1

immediate early response 3 interacting protein 1
OMIM: 609382
PanelMode of inheritanceDetails
7 panels
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome 614231
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS, Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS
R-numbers: R143
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy and diabetes syndrome, OMIM:614231
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS
R-numbers: R88
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231, Microcephaly (-3 to -9 SD)