Structural eye disease
Gene: OFD1
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).Created: 29 Sep 2023, 1:16 p.m. | Last Modified: 29 Sep 2023, 1:16 p.m.
Panel Version: 3.15
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 29 Sep 2023, 12:33 p.m. | Last Modified: 29 Sep 2023, 12:33 p.m.
Panel Version: 3.11
PMID: 35398350 report another case with coloboma.
PMID: 30895720 report microphthalmia with microcornea, as well as coloboma.Created: 19 Sep 2023, 12:49 p.m. | Last Modified: 19 Sep 2023, 12:49 p.m.
Panel Version: 3.4
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Joubert syndrome 10, 300804
Publications
Meng one case with coloboma, many other cases without structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Joubert syndrome 10; ?Retinitis pigmentosa 23; 300804; 300424
Publications
Mode of pathogenicity
Other - please provide details in the comments
Promoted from red to amber based on the expert review provided.Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Meng one case with coloboma, many other cases without structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424
Publications
Mode of pathogenicity
Other - please provide details in the comments
Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608
Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608
Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608; 31373179
Publications for gene: OFD1 were set to 28173652; 35398350; 30895720
Gene: ofd1 has been classified as Amber List (Moderate Evidence).
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
Tag Q3_23_promote_green tag was added to gene: OFD1. Tag Q3_23_NHS_review tag was added to gene: OFD1.
Publications for gene: OFD1 were set to 28173652
Source Expert Review Amber was added to OFD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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
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