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| Photosensitivity Syndromes v1.4 | DNA2 |
Seb Lunke gene: DNA2 was added gene: DNA2 was added to Photosensitivity Syndromes. Sources: Literature deep intronic, founder tags were added to gene: DNA2. Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to 37133451 Phenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated Review for gene: DNA2 was set to AMBER Added comment: A phenotypic expansion has been proposed based on a cohort of six Brazilian probands that in addition to classic RTS also presented with poikiloderma and congenital cataracts. All shared the same deep intronic splice variant, c.588–2214 A>G, in trans with other LoF variants. The deep intronic variant has been shown to result in the inclusion of a cryptic exon in the mature RNA, resulting in a frame shift and premature termination codon. The authors speculate that the shared intronic variant, which they attribute to a founder effect, has residual normal splicing responsible for the phenotypic variation. Sources: Literature |
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| Photosensitivity Syndromes v0.52 | XPA | Zornitza Stark Marked gene: XPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.52 | XPA | Zornitza Stark Gene: xpa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.52 | XPA | Zornitza Stark Phenotypes for gene: XPA were changed from to Xeroderma pigmentosum, group A , MIM#278700; MONDO:0010210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.51 | XPA | Zornitza Stark Publications for gene: XPA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.50 | XPA | Zornitza Stark Mode of inheritance for gene: XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.0 | XPA |
Zornitza Stark gene: XPA was added gene: XPA was added to Photosensitivity syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: XPA was set to Unknown |
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