Neurological ciliopathiesGene: C5orf42
Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1
Created: 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
Joubert syndrome; Oral-facial-digital syndrome type VI
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: C5orf42.
gene: C5orf42 was added gene: C5orf42 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C5orf42 were set to 22693042; 25920555; 22425360 Phenotypes for gene: C5orf42 were set to Joubert syndrome; Oral-facial-digital syndrome type VI; Joubert syndrome 17