Ocular coloboma

Gene: OFD1

Red List (low evidence)

OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 30 panels

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: Expert recommendation to leave red as low frequency association
Created: 18 Jan 2017, 11:40 a.m.

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel; positive families within patient cohort. Evidence from literature.
Created: 16 Mar 2016, 9:07 a.m.

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

Phenotypes
X-linked Joubert syndrome; Oral-facial-digital syndrome I

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Feb 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

18 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

1 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 3

Upload gene information

Alice Gardham (Genomics England)

OFD1 was added to Ocular colobomapanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

OFD1 was added to Ocular colobomapanel. Sources: Expert Review

1 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

OFD1 was created by ellenmcdonagh