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| Cataract v0.262 | NSUN2 | Zornitza Stark Phenotypes for gene: NSUN2 were changed from Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features to Mental retardation, autosomal recessive 5, MIM# 611091; Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.261 | NSUN2 | Zornitza Stark Publications for gene: NSUN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.260 | NSUN2 | Zornitza Stark reviewed gene: NSUN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 5, MIM# 611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.260 | NSUN2 | Tiong Tan Marked gene: NSUN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.260 | NSUN2 | Tiong Tan Gene: nsun2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.260 | NSUN2 | Tiong Tan edited their review of gene: NSUN2: Changed publications: 33084202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.260 | NSUN2 |
Tiong Tan gene: NSUN2 was added gene: NSUN2 was added to Cataract. Sources: Literature Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NSUN2 were set to Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features Penetrance for gene: NSUN2 were set to Complete Review for gene: NSUN2 was set to AMBER 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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