Activity
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9 actions
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| Fetal anomalies v6.152 | CHD8 | Arina Puzriakova Added phenotypes Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 for gene: CHD8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | CHD8 | Arina Puzriakova commented on gene: CHD8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | CHD8 | Vicki Harrison reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 40848233; Phenotypes: Intellectual developmental disorder with autism and macrocephaly, OMIM:615032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.25 | CHD8 | Achchuthan Shanmugasundram Phenotypes for gene: CHD8 were changed from AUTISM; Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 to Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | CHD8 | Achchuthan Shanmugasundram commented on gene: CHD8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | CHD8 | Elizabeth Scotchman reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: 31980904; Phenotypes: Intellectual developmental disorder with autism and macrocephaly, MIM#615032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | CHD8 |
Achchuthan Shanmugasundram Source NHS GMS was added to CHD8. Mode of inheritance for gene CHD8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 for gene: CHD8 Publications for gene: CHD8 were updated from to 31980904 |
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| Fetal anomalies v0.9 | CHD8 | Rebecca Foulger reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CHD8 |
Rebecca Foulger gene: CHD8 was added gene: CHD8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD8 were set to AUTISM |
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