Activity
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7 actions
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| Prepair 1000+ v1.1123 | NMNAT1 | Zornitza Stark Marked gene: NMNAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1123 | NMNAT1 | Zornitza Stark Gene: nmnat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1123 | NMNAT1 | Zornitza Stark Phenotypes for gene: NMNAT1 were changed from Leber congenital amaurosis 9, 608553 (3) to Leber congenital amaurosis 9, MIM#608553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1122 | NMNAT1 | Zornitza Stark Publications for gene: NMNAT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.992 | NMNAT1 |
Ee Ming Wong changed review comment from: Syndromic and non-syndromic causes of LCA are associated with bi-allelic variants in this gene. Non-syndromic LCA: multiple affected families reported, p.Glu257Lys is a common founder variant. Syndromic disorder: three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant. Green for non-syndromic LCA (MIM# added to review). No additional affected individuals in the literature (Amber? MIM# has not been added to review).; to: Syndromic and non-syndromic causes of LCA are associated with bi-allelic variants in this gene. Non-syndromic LCA: multiple affected families reported, p.Glu257Lys is a common founder variant. Syndromic disorder: three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant. Green for non-syndromic LCA (MIM# added to review). No additional affected individuals in the literature for syndromic LCA (Amber? MIM# has not been added to review). |
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| Prepair 1000+ v1.992 | NMNAT1 | Ee Ming Wong reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32533184, 33668384, 22842230, 22842229; Phenotypes: Leber congenital amaurosis 9 (MIM#608553); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | NMNAT1 |
Zornitza Stark gene: NMNAT1 was added gene: NMNAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9, 608553 (3) |
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