Structural eye disease
Gene: C5orf42
Lopez: one case with microphthalmia among 11 families, compound het for missense and frameshift, parents not availableCreated: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Lopez: one case with microphthalmia among 11 families, compound het for missense and frameshift, parents not availableCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 17; 614615
Publications
Variants in this GENE are reported as part of current diagnostic practice
Added new-gene-name tag, new approved HGNC gene symbol for C5orf42 is CPLANE1Created: 9 May 2019, 3:25 p.m.
Phenotypes
Oriofaciodigital Syndrome VI, OFD6
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Lopez: one case with microphthalmia among 11 families, compound het for missense and frameshift, parents not availableCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 17, 614615
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: C5orf42.
Source London North GLH was added to C5orf42. Added phenotypes Oriofaciodigital Syndrome VI, OFD6, 277170 for gene: C5orf42
Source NHS GMS was added to C5orf42. Added phenotypes Joubert syndrome 17, 614615 for gene: C5orf42 Publications for gene C5orf42 were changed from 22425360; 22693042; 25920555 to 24178751
gene: C5orf42 was added gene: C5orf42 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C5orf42 were set to 22425360; 22693042; 25920555 Phenotypes for gene: C5orf42 were set to Oral-facial-digital syndrome type VI; Joubert syndrome