Structural eye disease
Gene: TUBGCP4
Scheidecker: three families plus zebrafish modelCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
Publications
Promoted from amber to green as there is sufficient evidence.Created: 24 Apr 2019, 2:35 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Scheidecker: three families plus zebrafish modelCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: tubgcp4 has been classified as Green List (High Evidence).
Gene: tubgcp4 has been classified as Green List (High Evidence).
Source NHS GMS was added to TUBGCP4. Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
gene: TUBGCP4 was added gene: TUBGCP4 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP4 were set to 25817018 Phenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335