| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.99 | HMX1 | Ivone Leong Added comment: Comment on mode of inheritance: MOI corrected from Both monoallelic and biallelic to Biallelic based on reviewers comments and OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.99 | HMX1 | Ivone Leong Mode of inheritance for gene: HMX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | HMX1 | Nicola Ragge reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423520, 21417677, 25574057, 29140751; Phenotypes: Oculoauricular syndrome 612109; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.71 | HMX1 | Ivone Leong edited their review of gene: HMX1: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 18423520, 21417677, 25574057, 29140751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | HMX1 | Ivone Leong reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423520, 21417677, 25574057, 29140751; Phenotypes: Oculoauricular syndrome 612109; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | HMX1 |
Ivone Leong Source NHS GMS was added to HMX1. Source Expert Review Green was added to HMX1. Mode of inheritance for gene HMX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Oculoauricular syndrome 612109 for gene: HMX1 Publications for gene HMX1 were changed from 18423520; 21417677; 25574057 to 21417677; 29140751; 25574057; 18423520 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.10 | HMX1 | Ivone Leong Mode of inheritance for gene: HMX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | HMX1 |
Ellen McDonagh gene: HMX1 was added gene: HMX1 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: HMX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HMX1 were set to 18423520; 21417677; 25574057 Phenotypes for gene: HMX1 were set to Oculoauricular syndrome 612109 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||