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| Fetal anomalies v1.423 | PJA1 | Zornitza Stark Phenotypes for gene: PJA1 were changed from Trigonocephaly, intellectual disability to X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.422 | PJA1 | Zornitza Stark reviewed gene: PJA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3477 | PJA1 | Zornitza Stark Marked gene: PJA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3477 | PJA1 | Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3477 | PJA1 | Zornitza Stark Classified gene: PJA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3477 | PJA1 | Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3400 | PJA1 |
Krithika Murali gene: PJA1 was added gene: PJA1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PJA1 were set to 32530565 Phenotypes for gene: PJA1 were set to Trigonocephaly, intellectual disability Review for gene: PJA1 was set to AMBER Added comment: No new publications since last PanelApp review August 2020 -- Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect. Sources: Literature |
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