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| Early onset or syndromic epilepsy v2.463 | COLGALT1 | Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is not enough evidence to support a gene-disease association as only 2 of 3 cases had seizures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.463 | COLGALT1 |
Ivone Leong Tag Q4_21_rating was removed from gene: COLGALT1. Tag watchlist tag was added to gene: COLGALT1. |
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| Early onset or syndromic epilepsy v2.463 | COLGALT1 | Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.463 | COLGALT1 |
Ivone Leong gene: COLGALT1 was added gene: COLGALT1 was added to Genetic epilepsy syndromes. Sources: Expert Review Amber,Literature Q4_21_rating tags were added to gene: COLGALT1. Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLGALT1 were set to 30412317; 33709034; 31759980 Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3, OMIM:618360 |
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