EIF2AK3

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

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red EIF2AK3 in Multiple Epiphyseal Dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.7	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus Wolcott-Rallison syndrome
No list EIF2AK3 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed UKGTN Phenotypes Neonatal Diabetes Tags curated_removed
Green EIF2AK3 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.69	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus Wolcott-Rallison syndrome
Green EIF2AK3 in Neonatal diabetes Level 2: Endocrinology Version 5.23 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Phenotypes Wolcott-Rallison syndrome, OMIM:226980 (includes onset of diabetes in neonatal period/ early infancy)
Green EIF2AK3 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.69	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus Wolcott-Rallison syndrome
No list EIF2AK3 in Monogenic diabetes Level 2: Endocrinology Version 3.17 Latest signed off version: v3.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Wolcott-Rallison syndrome Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus Tags curated_removed
Green EIF2AK3 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.40 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Wolcott-Rallison syndrome 226980 Wolcott-Rallison syndrome 226980
Green EIF2AK3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes WOLCOTT-RALLISON SYNDROME
No list EIF2AK3 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Wolcott-Rallison syndrome Tags curated_removed
Green EIF2AK3 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WOLCOTT-RALLISON SYNDROME 226980
Green EIF2AK3 in Intellectual disability Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Wolcott-Rallison syndrome, 226980 WOLCOTT-RALLISON SYNDROME (WRS)