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| Early onset or syndromic epilepsy v3.30 | GRIK2 | Arina Puzriakova Tag Q4_21_rating was removed from gene: GRIK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.29 | GRIK2 | Arina Puzriakova reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.28 | GRIK2 |
Arina Puzriakova Source Expert Review Green was added to GRIK2. Source NHS GMS was added to GRIK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v2.442 | GRIK2 | Ivone Leong Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6, OMIM:611092; on-syndromic neurodevelopmental disorder (NDD), autosomal dominant to Mental retardation, autosomal recessive, 6, OMIM:611092; non-syndromic neurodevelopmental disorder (NDD), autosomal dominant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.441 | GRIK2 | Ivone Leong Mode of inheritance for gene: GRIK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.440 | GRIK2 | Ivone Leong Classified gene: GRIK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.440 | GRIK2 | Ivone Leong Added comment: Comment on list classification: Demoted from Green to Amber as this gene has not been approved to be on this panel yet. It should be noted that not all patients with variants in this gene develop seizures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.440 | GRIK2 | Ivone Leong Gene: grik2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.439 | GRIK2 |
Ivone Leong Tag Q4_21_MOI was removed from gene: GRIK2. Tag Q4_21_rating tag was added to gene: GRIK2. |
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| Early onset or syndromic epilepsy v2.439 | GRIK2 | Ivone Leong Entity copied from Intellectual disability v3.1341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.439 | GRIK2 |
Ivone Leong gene: GRIK2 was added gene: GRIK2 was added to Genetic epilepsy syndromes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,Victorian Clinical Genetics Services Q4_21_MOI tags were added to gene: GRIK2. Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRIK2 were set to 34375587; 17847003; 25039795 Phenotypes for gene: GRIK2 were set to Mental retardation, autosomal recessive, 6, OMIM:611092; on-syndromic neurodevelopmental disorder (NDD), autosomal dominant Penetrance for gene: GRIK2 were set to Complete |
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