Structural eye disease
Gene: TBC1D32
FC - I would classify the gene as AMBER, because although there is only 1 human mutation reported with this phenotype, this was found in a consanguineous family and the eye phenotype is supported by animal models (Ko et al., 2010, PubMed: 20159594)Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome 9; 258865
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - I would classify the gene as AMBER, because although there is only 1 human mutation reported with this phenotype, this was found in a consanguineous family and the eye phenotype is supported by animal models (Ko et al., 2010, PubMed: 20159594)Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome 9; 258865
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag gene-checked tag was added to gene: TBC1D32.
Publications for gene: TBC1D32 were set to 24285566
gene: TBC1D32 was added gene: TBC1D32 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 24285566 Phenotypes for gene: TBC1D32 were set to Orofaciodigital syndrome 9, 258865