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| Bilateral congenital or childhood onset cataracts v1.33 | EIF2B2 | Ivone Leong Classified gene: EIF2B2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.33 | EIF2B2 | Ivone Leong Gene: eif2b2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.32 | EIF2B2 |
Ivone Leong changed review comment from: EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71). There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.; to: EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71). There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green. |
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| Bilateral congenital or childhood onset cataracts v1.32 | EIF2B2 | Ivone Leong edited their review of gene: EIF2B2: Added comment: EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71). There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.; Changed publications: 21484434, 14566705, 28041799 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.31 | EIF2B2 | Ivone Leong reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.30 | EIF2B2 |
Ivone Leong gene: EIF2B2 was added gene: EIF2B2 was added to Cataracts. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B2 were set to 28041799; 21484434; 14566705 Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 |
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