Activity
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5 actions
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| Bilateral congenital or childhood onset cataracts v2.65 | NSUN2 | Ivone Leong Classified gene: NSUN2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.65 | NSUN2 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.65 | NSUN2 | Ivone Leong Gene: nsun2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.64 | NSUN2 | Ivone Leong Phenotypes for gene: NSUN2 were changed from Mental retardation, autosomal recessive 5, MIM# 611091; cataracts to Mental retardation, autosomal recessive 5, OMIM:611091; cataracts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.59 | NSUN2 |
Zornitza Stark gene: NSUN2 was added gene: NSUN2 was added to Cataracts. Sources: Literature Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN2 were set to 33084202 Phenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, MIM# 611091; cataracts Review for gene: NSUN2 was set to RED Added comment: Two siblings compound het for two variants c.546_547insCT, p.Met183Leufs*13; c.1583del, p.Pro528Hisfs*19 and juvenile cataracts Sources: Literature |
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