1. Panels
  2. Eye Anterior Segment Abnormalities
  3. ADAMTSL4
STRs in panel
Prev Next
Regions in panel
Prev Next

Eye Anterior Segment Abnormalities

Gene: ADAMTSL4

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established phenotypic association to ectopia lentis
Sources: Literature
Created: 24 Nov 2023, 4:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectopia lentis et pupillae, AR (MIM#225200); Isolated ectopia lentis, autosomal recessive, AR (MIM#225100), Craniosynostosis with ectopia lentis, AR (MONDO#0011347)

Created: 24 Nov 2023, 4:06 a.m.

Panel version: 1.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectopia lentis et pupillae, AR (MIM#225200)
  • Isolated ectopia lentis, autosomal recessive, AR (MIM#225100), Craniosynostosis with ectopia lentis, AR (MONDO#0011347)
OMIM
610113
Clinvar variants
Variants in ADAMTSL4
Penetrance
None
Panels with this gene

History Filter Activity

24 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: adamtsl4 has been classified as Green List (High Evidence).

24 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: adamtsl4 has been classified as Green List (High Evidence).

24 Nov 2023, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

24 Nov 2023, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: ADAMTSL4 was added gene: ADAMTSL4 was added to Eye Anterior Segment Abnormalities. Sources: Literature Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTSL4 were set to Ectopia lentis et pupillae, AR (MIM#225200); Isolated ectopia lentis, autosomal recessive, AR (MIM#225100), Craniosynostosis with ectopia lentis, AR (MONDO#0011347) Review for gene: ADAMTSL4 was set to GREEN