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| Monogenic short stature v2.9 | DNA2 | Ida Ertmanska changed review comment from: Comment on list classification: As noted for Seckel syndrome, Rothmund-Thomson syndrome cases are not in the scope of this panel, because the short stature is syndromic.; to: Comment on list classification: As noted for Seckel syndrome, Rothmund-Thomson syndrome cases are not in the scope of this panel, because the short stature is syndromic and includes microcephaly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | DNA2 | Ida Ertmanska commented on gene: DNA2: Comment on list classification: As noted for Seckel syndrome, Rothmund-Thomson syndrome cases are not in the scope of this panel, because the short stature is syndromic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | DNA2 | Ida Ertmanska reviewed gene: DNA2: Rating: RED; Mode of pathogenicity: None; Publications: 37055165, 40693833; Phenotypes: Rothmund-Thomson syndrome, type 4, OMIM:620819, Seckel syndrome 8, OMIM:615807, Rothmund-Thomson syndrome type 4, MONDO:0970950, Seckel syndrome 8, MONDO:0014350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.98 | DNA2 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.78 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.98 | DNA2 |
Arina Puzriakova gene: DNA2 was added gene: DNA2 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to 24389050; 31045292 Phenotypes for gene: DNA2 were set to Seckel syndrome 8, OMIM:615807 |
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