Genes in panel
STRs in panel
Prev Next

Structural eye disease

Gene: OFD1

Green List (high evidence)

OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 29 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.
Panel Version: 3.79

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Hannah Knight (NIHR BioResource - University of Cambridge)

Green List (high evidence)

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

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

Meng one case with coloboma, many other cases without structural eye disease
Created: 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

Ivone Leong (Genomics England Curator)

I don't know

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 disease
Created: 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

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: OFD1. Tag Q3_23_NHS_review was removed from gene: OFD1.

2 May 2024, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to OFD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Sep 2023, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608

29 Sep 2023, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608

29 Sep 2023, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608; 31373179

29 Sep 2023, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: OFD1 were set to 28173652; 35398350; 30895720

29 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ofd1 has been classified as Amber List (Moderate Evidence).

29 Sep 2023, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

29 Sep 2023, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: OFD1. Tag Q3_23_NHS_review tag was added to gene: OFD1.

29 Sep 2023, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: OFD1 were set to 28173652

25 Apr 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to OFD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

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

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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