Glaucoma (developmental)
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
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
Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1Created: 21 Mar 2018, 12:28 p.m.
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
C5orf42 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory