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| Severe microcephaly v2.293 | EIF2S3 | Eleanor Williams Tag Q3_21_rating was removed from gene: EIF2S3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | EIF2S3 | Sarah Leigh commented on gene: EIF2S3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | EIF2S3 |
Eleanor Williams Source Expert Review Green was added to EIF2S3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.244 | EIF2S3 | Ivone Leong Tag Q3_21_rating tag was added to gene: EIF2S3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.244 | EIF2S3 | Ivone Leong Classified gene: EIF2S3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.244 | EIF2S3 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.244 | EIF2S3 | Ivone Leong Gene: eif2s3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.243 | EIF2S3 | Ivone Leong Phenotypes for gene: EIF2S3 were changed from MEHMO syndrome, MIM# 300148 to MEHMO syndrome, OMIM:300148 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | EIF2S3 |
Zornitza Stark 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 Added comment: 9 families reported (3 had the same variant) with MEHMO syndrome (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity). Sources: Expert list |
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