Unexplained young onset end-stage renal disease
Gene: OFD1
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Comment when marking as ready: Associated with phenotype in G2P. At least three variants reported in Joubert syndrome 10 300804 and one in Simpson-Golabi-Behmel syndrome, type 2 300209Created: 5 Aug 2016, 8:45 a.m.
Comment on phenotypes: Also associated with Retinitis pigmentosa 23 300424 XLR and Orofaciodigital syndrome I 311200 XLDCreated: 5 Aug 2016, 8:41 a.m.
Comment on list classification: Based on review by Fiona Karet that this gene is used diagnostically
Created: 5 Jul 2016, 12:50 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Ckd, usually with facial and digital anomalies, but these may be missed.
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Syndromic - not relevant for this panel.Created: 10 May 2016, 12:28 p.m.
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:16 p.m.
Phenotypes
Oral-facial-digital syndrome 1; Joubert syndrome
Publications
gene: OFD1 was added gene: OFD1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode 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) Publications for gene: OFD1 were set to 16783569; 15221448; 11179005 Phenotypes for gene: OFD1 were set to Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR