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| Fetal anomalies v0.1926 | GNAO1 | Zornitza Stark Marked gene: GNAO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1926 | GNAO1 | Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1926 | GNAO1 | Zornitza Stark Phenotypes for gene: GNAO1 were changed from EPILEPTIC ENCEPHALOPATHY to Epileptic encephalopathy, early infantile, 17, MIM#615473; Neurodevelopmental disorder with involuntary movements, MIM# 617493 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1925 | GNAO1 | Zornitza Stark Publications for gene: GNAO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1924 | GNAO1 | Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1923 | GNAO1 |
Zornitza Stark changed review comment from: Loss of function mutations (PTCs and missense) cause EEIE, and gain of function mutations (missense, inframe deletion) cause NDIM. Almost all reports are de novo, rare parental mosaicism also reported (PMID: 30682224); to: Loss of function mutations (PTCs and missense) cause EEIE, and gain of function mutations (missense, inframe deletion) cause NDIM. Almost all reports are de novo, rare parental mosaicism also reported (PMID: 30682224) Microcephaly reported in some individuals. |
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| Fetal anomalies v0.1923 | GNAO1 | Zornitza Stark edited their review of gene: GNAO1: Changed phenotypes: Epileptic encephalopathy, early infantile, 17, MIM#615473, Neurodevelopmental disorder with involuntary movements, MIM# 617493 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GNAO1 |
Zornitza Stark gene: GNAO1 was added gene: GNAO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAO1 were set to EPILEPTIC ENCEPHALOPATHY |
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