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| Structural eye disease v1.152 | DDX58 | Eleanor Williams commented on gene: DDX58 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.152 | DDX58 | Eleanor Williams Tag new-gene-name tag was added to gene: DDX58. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.47 | DDX58 | Arina Puzriakova Publications for gene: DDX58 were set to 25620203; 30574673 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.46 | DDX58 | Arina Puzriakova Phenotypes for gene: DDX58 were changed from Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities. to Singleton-Merten syndrome 2, OMIM:616298; Singleton-Merten syndrome 2, MONDO:0014575 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.45 | DDX58 | Arina Puzriakova Mode of pathogenicity for gene: DDX58 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.44 | DDX58 | Arina Puzriakova edited their review of gene: DDX58: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.44 | DDX58 | Arina Puzriakova reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620203, 30574673, 33495304; Phenotypes: Singleton-Merten syndrome 2, OMIM:616298, Singleton-Merten syndrome 2, MONDO:0014575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | DDX58 | Nicola Ragge reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: ; Publications: 25620203, 30574673; Phenotypes: Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.71 | DDX58 | Ivone Leong edited their review of gene: DDX58: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 25620203, 30574673 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | DDX58 | Ivone Leong reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: ; Publications: 25620203, 30574673; Phenotypes: Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | DDX58 |
Ivone Leong Source NHS GMS was added to DDX58. Source Expert Review Green was added to DDX58. Added phenotypes Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities. for gene: DDX58 Publications for gene DDX58 were changed from 3588; 25620203; 2509 to 25620203; 30574673 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v0.2 | DDX58 |
Ellen McDonagh gene: DDX58 was added gene: DDX58 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DDX58 were set to 3588; 25620203; 2509 Phenotypes for gene: DDX58 were set to Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities. |
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