Severe microcephalyGene: EIF2S3
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (probable). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 20 Sep 2021, 2:44 p.m. | Last Modified: 20 Sep 2021, 2:44 p.m.
Panel Version: 2.244
9 families reported (3 had the same variant) with MEHMO syndrome (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity).
Sources: Expert list
Created: 4 Sep 2020, 8:56 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
MEHMO syndrome, MIM# 300148
Tag Q3_21_rating tag was added to gene: EIF2S3.
Gene: eif2s3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: EIF2S3 were changed from MEHMO syndrome, MIM# 300148 to MEHMO syndrome, OMIM:300148
gene: EIF2S3 was added gene: EIF2S3 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EIF2S3 were set to 23063529; 27333055; 28055140; 32799315 Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, MIM# 300148 Review for gene: EIF2S3 was set to GREEN