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Retinal disorders

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 30 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to OFD1. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

OFD1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

OFD1 was created by ellenmcdonagh