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| Fetal anomalies v0.4602 | PGAP2 | Zornitza Stark Marked gene: PGAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4602 | PGAP2 | Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4602 | PGAP2 | Zornitza Stark Phenotypes for gene: PGAP2 were changed from INTELLECTUAL DISABILITY to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4601 | PGAP2 | Zornitza Stark Publications for gene: PGAP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4600 | PGAP2 |
Zornitza Stark changed review comment from: Bi-allelic variants in this gene are typically associated with severe DD/ID, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase, although presentations with milder ID have also been reported. More than 10 unrelated families reported.; to: Bi-allelic variants in this gene are typically associated with severe DD/ID, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase, although presentations with milder ID have also been reported. More than 10 unrelated families reported. Microcephaly is a feature. |
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| Fetal anomalies v0.0 | PGAP2 |
Zornitza Stark gene: PGAP2 was added gene: PGAP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP2 were set to INTELLECTUAL DISABILITY |
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