EIF2AK3

eukaryotic translation initiation factor 2 alpha kinase 3
OMIM: 604032, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green EIF2AK3 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wolcott-Rallison syndrome MONDO:0009192 neonatal diabetes mellitus epiphyseal dysplasia/osteopenia hepatic/renal dysfunction intellectual disability/developmental delay
Green EIF2AK3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green EIF2AK3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Phenotypes Wolcott-Rallison syndrome 226980 Wolcott-Rallison syndrome 226980
Green EIF2AK3 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Wolcott-Rallison syndrome MONDO:0009192 neonatal diabetes mellitus MONDO:0016391
Green EIF2AK3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolcott-Rallison syndrome, 226980 (3)
Green EIF2AK3 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Wolcott-Rallison syndrome
Green EIF2AK3 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Wolcott-Rallison syndrome MIM#226980
Green EIF2AK3 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolcott-Rallison syndrome, 226980 (3)
Green EIF2AK3 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Wolcott-Rallison syndrome, MIM#226980 Tags treatable endocrine
Green EIF2AK3 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolcott-Rallison syndrome, 226980 (3)