Rare multisystem ciliopathy disorders
Gene: C5orf42Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1Created: 21 Mar 2018, 12:28 p.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 Joubert syndrome 17 and Orofaciodigital syndrome VI.Created: 27 Aug 2016, 9:59 a.m.
On current diagnostic panel; positive families within our patient cohort. Evidence from the literature.Created: 15 Mar 2016, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome; Oral-facial-digital syndrome type VI
Publications
Variants in this GENE are reported as part of current diagnostic practice
Promoted to version 1 by Alice Gardham on 26th January 2017
C5orf42 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
This gene has been classified as Green List (High Evidence).
Phenotypes for C5orf42 were set to Joubert syndrome; Oral-facial-digital syndrome type VI
Publications for C5orf42 were set to 22425360; 22693042; 25920555
This gene has been classified as Green List (High Evidence).
C5orf42 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
C5orf42 was created by ellenmcdonagh