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Limb disorders

Gene: OFD1

No list

OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 28 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 11:09 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from 'other' as this option captures both monoallelic and biallelic variants in females.
Created: 3 Apr 2017, 4:58 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and G2P. At least six variants reported Orofaciodigital syndrome I 311200, three in Joubert syndrome 10 300804 and one in Simpson-Golabi-Behmel syndrome, type 2 300209
Created: 29 Jul 2016, 11:12 a.m.
Comment on phenotypes: Variant reported in one Retinitis pigmentosa 23 300424 patient
Created: 29 Jul 2016, 11:11 a.m.
Comment on mode of inheritance: Both X-linked recessive and dominant
Created: 29 Jul 2016, 11:10 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:06 a.m.

Mode of inheritance
Other - please specify in evaluation comments

Phenotypes
?Retinitis pigmentosa 23 300424 XLR; Joubert syndrome 10 300804; Orofaciodigital syndrome I 311200 XLD; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR

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

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ofd1 has been removed from the panel.

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ofd1 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to OFD1. Rating Changed from Green List (high evidence) to No List (delete)

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to OFD1. Panel: Limb disorders Phenotypes for gene OFD1 were set to Joubert syndrome 10 300804, Orofaciodigital syndrome I 311200 XLD, Simpson-Golabi-Behmel syndrome, type 2 300209 XLR, Polydactyly

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to OFD1. Panel: Limb disorders UKGTN was added to OFD1. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to OFD1. Panel: Limb disorders Expert list was added to OFD1. Panel: Limb disorders Emory Genetics Laboratory was added to OFD1. Panel: Limb disorders Model of inheritance for gene OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to OFD1. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

OFD1 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

OFD1 was created by Ellen McDonagh