Rare multisystem ciliopathy disorders
Gene: OFD1
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
Comment on mode of inheritance: Seems to be X-linked dominant for orofaciodigital syndrome and X-linked recessive for Joubert syndrome, therefore for this combined panel, the default was chosen (monoallelic mutations in females may cause the disorder).Created: 28 Aug 2016, 7:36 a.m.
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for both Orofaciodigital syndrome I and Joubert syndrome 10.
Created: 28 Aug 2016, 7:33 a.m.
Phenotypes and their corresponding mode of inheritance (as indicated in brackets following the phenotype) were sourced from OMIM. XLR = X-linked recessive, XLD = X-linked dominant.Created: 8 Jan 2016, 11:45 a.m.
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for OFD1 were set to Joubert syndrome 10; X-linked Joubert syndrome;Orofaciodigital syndrome I
Phenotypes for OFD1 were set to Joubert syndrome 10;Orofaciodigital syndrome I
Publications for OFD1 were set to 22353940; 19800048
Mode of inheritance for OFD1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance for OFD1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance for OFD1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
OFD1 was added to Rare multisystem ciliopathy disorderspanel. Source: Expert list
Phenotypes for gene OFD1 were set to Joubert syndrome 10; Orofaciodigital syndrome I (XLD); Simpson-Golabi-Behmel syndrome, type 2 (XLR); ?Retinitis pigmentosa 23 (XLR)
Phenotypes for gene OFD1 were set to Joubert syndrome 10; Orofaciodigital syndrome I (XLD); Simpson-Golabi-Behmel syndrome, type 2 (XLR)
OFD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Other
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)
OFD1 was created by ellenmcdonagh
OFD1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing