Unexplained kidney failure in young people
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
Phenotypes for gene: OFD1 were changed from Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR to Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Promoted to version 1 17th August 2016
Phenotypes for OFD1 were set to Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
This gene has been classified as Green List (High Evidence).
OFD1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Expert Review,Radboud University Medical Center, Nijmegen,UKGTN
OFD1All sources for gene: OFD1 were removed
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for OFD1 were set to 16783569; 15221448; 11179005
Phenotypes for OFD1 were set to Ckd, usually with facial and digital anomalies, but these may be missed; Orofaciodigital syndrome I 311200 XLD; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
OFD1 was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
OFD1 was created by sleigh
OFD1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red