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| Structural eye disease v0.76 | SBF2 | Nicola Ragge reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12687498, 15304601; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 604563, CMT with early onset glaucoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.63 | SBF2 | Ivone Leong Classified gene: SBF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.63 | SBF2 | Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.63 | SBF2 | Ivone Leong Gene: sbf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | SBF2 | Ivone Leong reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12687498, 15304601; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 604563, CMT with early onset glaucoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | SBF2 |
Ivone Leong Source NHS GMS was added to SBF2. Added phenotypes Charcot-Marie-Tooth disease, type 4B2 604563; CMT with early onset glaucoma for gene: SBF2 Publications for gene SBF2 were changed from to 15304601; 12687498 |
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| Structural eye disease v0.2 | SBF2 |
Ellen McDonagh gene: SBF2 was added gene: SBF2 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2 604563; CMT with early onset glaucoma |
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