Genomics England

EIF2S3

eukaryotic translation initiation factor 2 subunit gamma

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE, MRXSBRK
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MEHMO syndrome, 300148
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MEHMO syndrome, OMIM:300148, MEHMO syndrome, MONDO:0010258
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Mental retardation, X-linked, syndromic, Borck type, 300987
Green in Neonatal diabetes R-numbers: R143 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes diabetes mellitus (disease), MONDO:0005015, MEHMO syndrome, OMIM:300148
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MEHMO syndrome, OMIM:300148