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| Fetal anomalies v0.3991 | ANKRD17 | Zornitza Stark Marked gene: ANKRD17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3991 | ANKRD17 | Zornitza Stark Gene: ankrd17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3991 | ANKRD17 | Zornitza Stark Classified gene: ANKRD17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3991 | ANKRD17 | Zornitza Stark Gene: ankrd17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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