Activity
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| Fetal anomalies v4.135 | KCNH1 | Achchuthan Shanmugasundram Phenotypes for gene: KCNH1 were changed from Zimmermann-Laband syndrome 1, OMIM:135500; TEMPLE BARRAISTER SYNDROME to Zimmermann-Laband syndrome 1, OMIM:135500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | KCNH1 | Achchuthan Shanmugasundram commented on gene: KCNH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | KCNH1 | Denise Williams reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33811134; Phenotypes: Zimmermann-Laband syndrome 1, OMIM:135500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | KCNH1 |
Achchuthan Shanmugasundram Source NHS GMS was added to KCNH1. Mode of inheritance for gene KCNH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Zimmermann-Laband syndrome 1, OMIM:135500 for gene: KCNH1 Publications for gene: KCNH1 were updated from to 33811134 |
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| Fetal anomalies v0.9 | KCNH1 | Rebecca Foulger commented on gene: KCNH1: DDG2P rating in original PAGE list: Probable for TEMPLE BARRAISTER SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | KCNH1 | Rebecca Foulger reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | KCNH1 |
Rebecca Foulger gene: KCNH1 was added gene: KCNH1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME |
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