Cone-rod Dystrophy
Gene: TTLL5

TTLL5 (tubulin tyrosine ligase like 5)
EnsemblGeneIds (GRCh38): ENSG00000119685
EnsemblGeneIds (GRCh37): ENSG00000119685
OMIM: 612268, Gene2Phenotype
TTLL5 is in 2 panels

1 review

Manny Jacobs (Victorian Clinical Genetics Services)

Green List (high evidence)

Central and peripheral cone dysfunction and preservation of rod photoreceptor function
First described in PMID: 24791901 (2019) with five patients with biallelic variants in TTLL5 from four families.
PMID: 28356705 (2017), PMID: 34203883 (2021) report five different families with cone and cone-rod dystrophy and biallelic TTLL5 variants.
PMID: 28173158 (2016) report two male patients with truncating variants and reduced sperm motility and fertility.
Created: 30 Mar 2022, 11:58 p.m. | Last Modified: 30 Mar 2022, 11:58 p.m.

Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372

Publications

Created: 30 Mar 2022, 11:58 p.m.
Last Modified: 30 Mar 2022, 11:58 p.m.
Panel version: 0.40

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Cone-rod dystrophy 19,615860

OMIM

612268

Clinvar variants

Variants in TTLL5

Penetrance

None

Publications

30679166

Panels with this gene

History Filter Activity

19 May 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TTLL5 was added gene: TTLL5 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TTLL5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTLL5 were set to 30679166 Phenotypes for gene: TTLL5 were set to Cone-rod dystrophy 19,615860

Cone-rod Dystrophy Gene: TTLL5