| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Photosensitivity Syndromes v1.8 | DNA2 | Zornitza Stark Publications for gene: DNA2 were set to 37133451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v1.7 | DNA2 | Lucy Spencer reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 37055165; Phenotypes: Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v1.5 | DNA2 | Seb Lunke Marked gene: DNA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v1.5 | DNA2 | Seb Lunke Gene: dna2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v1.5 | DNA2 | Seb Lunke Classified gene: DNA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v1.5 | DNA2 | Seb Lunke Gene: dna2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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