Joubert syndrome
Gene: OFD1

OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 26 panels

1 review

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

Created: 16 Mar 2016, 9:07 a.m.

Panel version: 0.27

Details

Mode of Inheritance

Other - please specifiy in evaluation comments

Sources

Phenotypes

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

OMIM

300170

Clinvar variants

Variants in OFD1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

15 Mar 2016, Gel status: 0

Created

Penny Clouston (Oxford)

OFD1 was created by PennyC