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| Growth failure v1.21 | TRIP13 | Zornitza Stark Tag founder tag was added to gene: TRIP13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.21 | TRIP13 | Zornitza Stark Classified gene: TRIP13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.21 | TRIP13 | Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.20 | TRIP13 |
Zornitza Stark changed review comment from: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay. 6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect. Sources: Expert Review; to: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay. 6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect. Supportive functional data. Sources: Expert Review |
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| Growth failure v1.20 | TRIP13 | Zornitza Stark edited their review of gene: TRIP13: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.129 | TRIP13 | Zornitza Stark Marked gene: TRIP13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.129 | TRIP13 | Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.129 | TRIP13 | Zornitza Stark Classified gene: TRIP13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.129 | TRIP13 | Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.128 | TRIP13 |
Zornitza Stark gene: TRIP13 was added gene: TRIP13 was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP13 were set to 28553959 Phenotypes for gene: TRIP13 were set to Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Review for gene: TRIP13 was set to AMBER Added comment: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay. 6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect. Sources: Expert Review |
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