Activity
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10 actions
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| Fetal anomalies v0.4648 | NSD1 | Zornitza Stark Marked gene: NSD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4648 | NSD1 | Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4648 | NSD1 | Zornitza Stark Phenotypes for gene: NSD1 were changed from BECKWITH-WIEDEMANN SYNDROME; WEAVER SYNDROME; SOTOS SYNDROME to Sotos syndrome 1, MIM# 117550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4647 | NSD1 | Zornitza Stark Publications for gene: NSD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4646 | NSD1 | Zornitza Stark Mode of inheritance for gene: NSD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4645 | NSD1 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4645 | NSD1 | Zornitza Stark commented on gene: NSD1: Overgrowth, congenital anomalies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4645 | NSD1 | Zornitza Stark edited their review of gene: NSD1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3140 | ANKRD17 |
Krithika Murali gene: ANKRD17 was added gene: ANKRD17 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD17 were set to 33909992 Phenotypes for gene: ANKRD17 were set to Chopra-Amiel-Gordon syndrome - MIM#619504; multiple congenital malformations Review for gene: ANKRD17 was set to GREEN Added comment: 33909992 - Chopra et al 2021 reported 34 individuals from 33 families with a syndromic ID Multiple cases with antenatal anomalies or features detectable antenatally reported - 3/34 with cleft lip and/or palate (including 2 with Pierre Robin sequence) - 1/34 retrognathia - 5/34 renal anomalies including 3 with unilateral renal agenesis and 1 with antenatal diagnosis of horseshoe kidney - 2/34 microcephaly - 4/34 macrocephaly (1 noted on 37/40 antenatal USS to have macrocephaly and enlarged cisterna magna, 1 also had NSD1 variant) - 5/34 IUGR/fetal growth concerns -1/34 with VSD Sources: Literature |
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| Fetal anomalies v0.0 | NSD1 |
Zornitza Stark gene: NSD1 was added gene: NSD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NSD1 were set to BECKWITH-WIEDEMANN SYNDROME; WEAVER SYNDROME; SOTOS SYNDROME |
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