Activity
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| Fetal anomalies v4.132 | GABRB2 | Achchuthan Shanmugasundram Phenotypes for gene: GABRB2 were changed from Developmental and epileptic encephalopathy 92, OMIM:617829; Epilepsy and intellectual disability to Developmental and epileptic encephalopathy 92, OMIM:617829 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | GABRB2 | Achchuthan Shanmugasundram commented on gene: GABRB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GABRB2 | Natalie Canham reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33325057, 27789573, 29100083; Phenotypes: Developmental and epileptic encephalopathy 92, OMIM:617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | GABRB2 |
Achchuthan Shanmugasundram Source NHS GMS was added to GABRB2. Mode of inheritance for gene GABRB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Developmental and epileptic encephalopathy 92, OMIM:617829 for gene: GABRB2 Publications for gene: GABRB2 were updated from to 33325057; 27789573; 29100083 |
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| Fetal anomalies v0.9 | GABRB2 | Rebecca Foulger commented on gene: GABRB2: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | GABRB2 | Rebecca Foulger reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GABRB2 |
Rebecca Foulger gene: GABRB2 was added gene: GABRB2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GABRB2 were set to Epilepsy and intellectual disability |
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