Renal and urinary tract disorders
Gene: OFD1Comment 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
Miranda Durkie: No current test experience but
Phenotypes for gene: OFD1 were changed from Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 to Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Added phenotypes Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 for gene: OFD1 Publications for gene OFD1 were changed from to 16783569; 15221448; 11179005
gene: OFD1 was added gene: OFD1 was added to Renal and urinary tract disorders. 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)