Retinal disorders
Gene: TUBGCP6
At least 4 unrelated families reported.Created: 15 Oct 2020, 9:12 a.m. | Last Modified: 15 Oct 2020, 9:12 a.m.
Panel Version: 2.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.Created: 8 Jan 2021, 11:59 a.m. | Last Modified: 8 Jan 2021, 11:59 a.m.
Panel Version: 2.110
Comment on publications: PMID: 31077665 extra caseCreated: 8 Jan 2021, 11:59 a.m. | Last Modified: 8 Jan 2021, 11:59 a.m.
Panel Version: 2.110
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Tag for-review was removed from gene: TUBGCP6.
Source Expert Review Green was added to TUBGCP6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: TUBGCP6 were set to 22279524; 25344692
Mode of inheritance for gene: TUBGCP6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag for-review tag was added to gene: TUBGCP6.
Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, OMIM:251270; microcephaly and chorioretinopathy 1, MONDO:0009624
Publications for gene: TUBGCP6 were set to
gene: TUBGCP6 was added gene: TUBGCP6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: TUBGCP6 was set to