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| Early onset or syndromic epilepsy v3.35 | PGM2L1 | Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.34 | PGM2L1 | Achchuthan Shanmugasundram Tag gene-checked was removed from gene: PGM2L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.30 | PGM2L1 | Arina Puzriakova Tag Q3_21_rating was removed from gene: PGM2L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.29 | PGM2L1 | Arina Puzriakova edited their review of gene: PGM2L1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.28 | PGM2L1 |
Arina Puzriakova Source Expert Review Green was added to PGM2L1. Source NHS GMS was added to PGM2L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v2.519 | PGM2L1 | Arina Puzriakova Tag gene-checked tag was added to gene: PGM2L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.403 | PGM2L1 | Arina Puzriakova Entity copied from Intellectual disability v3.1218 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.403 | PGM2L1 |
Arina Puzriakova gene: PGM2L1 was added gene: PGM2L1 was added to Genetic epilepsy syndromes. Sources: Expert Review Amber,Literature Q3_21_rating tags were added to gene: PGM2L1. Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM2L1 were set to 33979636 Phenotypes for gene: PGM2L1 were set to Neurodevelopmental disorder |
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