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| Structural eye disease v3.15 | OFD1 | Sarah Leigh edited their review of gene: OFD1: Added comment: OFD1 variants have been associated with Joubert syndrome 10 (OMIM:300804) and as definitive Gen2Phen gene for the same condition. Ocular colobomas have been seen in at least four male patients with hemizygous OFD1 variants (PMIDs 28173652;35398350;30895720;28505061) and microphthalmia was seen in one case (PMID: 30895720).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.15 | OFD1 | Sarah Leigh Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.14 | OFD1 | Sarah Leigh Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.13 | OFD1 | Sarah Leigh Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608; 31373179 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.12 | OFD1 | Sarah Leigh Publications for gene: OFD1 were set to 28173652; 35398350; 30895720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.11 | OFD1 | Sarah Leigh Classified gene: OFD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.11 | OFD1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.11 | OFD1 | Sarah Leigh Gene: ofd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.10 | OFD1 | Sarah Leigh Phenotypes for gene: OFD1 were changed from ?Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804; X-linked Joubert syndrome; Oral-facial-digital syndrome I to Joubert syndrome 10, OMIM:300804; Joubert syndrome 10, MONDO:0010431 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.9 | OFD1 |
Sarah Leigh Tag Q3_23_promote_green tag was added to gene: OFD1. Tag Q3_23_NHS_review tag was added to gene: OFD1. |
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| Structural eye disease v3.9 | OFD1 | Sarah Leigh Publications for gene: OFD1 were set to 28173652 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | OFD1 | Hannah Knight reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35398350, 30895720; Phenotypes: Joubert syndrome 10, 300804; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | OFD1 | Nicola Ragge reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 28173652; Phenotypes: Joubert syndrome 10, ?Retinitis pigmentosa 23, 300804, 300424; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.75 | OFD1 | Ivone Leong commented on gene: OFD1: Promoted from red to amber based on the expert review provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.74 | OFD1 |
Ivone Leong Source Expert Review Amber was added to OFD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.48 | OFD1 | Ivone Leong edited their review of gene: OFD1: Changed phenotypes: Joubert syndrome 10, 300804, ?Retinitis pigmentosa 23, 300424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | OFD1 | Ivone Leong reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 28173652; Phenotypes: Optic atrophy plus syndrome, 125250, Optic atrophy 1, 165500, Behr syndrome, Glaucoma, normal tension, susceptibility to, 210000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | OFD1 |
Ivone Leong Source NHS GMS was added to OFD1. Mode of inheritance for gene OFD1 was changed from Other - please specifiy in evaluation comments to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes ?Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804 for gene: OFD1 Publications for gene OFD1 were changed from 22353940; 19800048 to 28173652 |
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| Structural eye disease v0.2 | OFD1 |
Ellen McDonagh gene: OFD1 was added gene: OFD1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: OFD1 was set to Other - please specifiy in evaluation comments Publications for gene: OFD1 were set to 22353940; 19800048 Phenotypes for gene: OFD1 were set to Oral-facial-digital syndrome I; X-linked Joubert syndrome |
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