EIF2S3

eukaryotic translation initiation factor 2 subunit gamma
OMIM: 300161, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red EIF2S3 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes MEHMO syndrome, MIM# 300148
Red EIF2S3 in Hyperinsulinism Level 2: Endocrine disorders Version 1.16	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes MEHMO syndrome, MIM# 300148
Green EIF2S3 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MEHMO syndrome, MIM# 300148
Green EIF2S3 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MEHMO syndrome, MIM# 300148
Green EIF2S3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes MEHMO syndrome MIM# 300148
Green EIF2S3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes MEHMO syndrome, MIM# 300148
Green EIF2S3 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Phenotypes microcephaly MEHMO syndrome (X-linked NDM and microcephaly),300148 diabetes epilepsy hypogonadism intellectual disability hypogenitalism central obesity
Green EIF2S3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes MEHMO syndrome, 300148 (3), X-linked recessive
Green EIF2S3 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MRXSBRK MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE
Green EIF2S3 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes MEHMO syndrome, OMIM:300148 MEHMO syndrome, MONDO:0010258
Green EIF2S3 in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes MEHMO syndrome, 300148 (3), X-linked recessive