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| Fetal anomalies v0.4282 | ARPC4 | Zornitza Stark Marked gene: ARPC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4282 | ARPC4 | Zornitza Stark Gene: arpc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4282 | ARPC4 | Zornitza Stark Classified gene: ARPC4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4282 | ARPC4 | Zornitza Stark Gene: arpc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4264 | ARPC4 |
Ain Roesley gene: ARPC4 was added gene: ARPC4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARPC4 were set to 35047857 Phenotypes for gene: ARPC4 were set to neurodevelopmental disorder, ARPC4-related MONDO#0700092 Penetrance for gene: ARPC4 were set to Complete Review for gene: ARPC4 was set to RED gene: ARPC4 was marked as current diagnostic Added comment: post natal microcephaly except for 1 noted as 4% at birth 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). Core features in affected individuals include microcephaly, mild motor delays, and significant speech impairment Sources: Literature |
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