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| DDG2P v3.71 | EDNRB | Achchuthan Shanmugasundram changed review comment from: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic.; to: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.71 | EDNRB | Achchuthan Shanmugasundram commented on gene: EDNRB: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STIL | Achchuthan Shanmugasundram reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: ; Publications: 19215732; Phenotypes: MICROCEPHALY PRIMARY TYPE 7, OMIM:612703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | STIL |
Achchuthan Shanmugasundram Source Expert Review Green was added to STIL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.12 | CACNA1E | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on new 'confirmed' gene-disease association added to DD-G2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. At the time of curation, the existing disorder (Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia) still has the DD-G2P Disease confidence of 'possible'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.12 | COG4 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber while panel is still V0 and unreviewed: Rated confirmed by DDG2P for COG4-CDG 319493, and Rated probable for recently-added Saul-Wilson syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STIL | Rebecca Foulger reviewed gene: STIL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | STIL |
Rebecca Foulger gene: STIL was added gene: STIL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STIL were set to 19215732 Phenotypes for gene: STIL were set to MICROCEPHALY PRIMARY TYPE 7 612703 |
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