Cataract
Gene: ADAMTSL4

ADAMTSL4 (ADAMTS like 4)
EnsemblGeneIds (GRCh38): ENSG00000143382
EnsemblGeneIds (GRCh37): ENSG00000143382
OMIM: 610113, Gene2Phenotype
ADAMTSL4 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Agree primary feature of this condition is ectopia lentis.
Created: 7 Jul 2020, 5:31 a.m. | Last Modified: 7 Jul 2020, 5:31 a.m.

Panel Version: 0.169

Created: 7 Jul 2020, 5:31 a.m.
Last Modified: 7 Jul 2020, 5:31 a.m.
Panel version: 0.169

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

Early onset cataract described in multiple patients with variants in ADAMTSL4 as a secondary manifestation to Ectopia lentis et pupillae (MIM 225200)
Sources: Literature
Created: 7 Jul 2020, 4:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ectopia lentis; cataract

Publications

Created: 7 Jul 2020, 4:52 a.m.

Panel version: 0.166

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

ectopia lentis
cataract

OMIM

610113

Clinvar variants

Variants in ADAMTSL4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

7 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamtsl4 has been classified as Red List (Low Evidence).

7 Jul 2020, Gel status: 1

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: ADAMTSL4 was added gene: ADAMTSL4 was added to Cataract. Sources: Literature Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL4 were set to 22338190; 20702823 Phenotypes for gene: ADAMTSL4 were set to ectopia lentis; cataract Review for gene: ADAMTSL4 was set to RED

Cataract Gene: ADAMTSL4