Cataracts

Gene: ADAMTSL4

Red List (low evidence)

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

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Associated with isolated ectopia lentis rather than cataracts
Created: 6 Jun 2016, 9:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Neuhann (2015) Am J Hum genet 167A:2376-2381

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Demoted to red due to expert review - this gene is associated with isolated ectopia lentis rather than cataracts.
Created: 14 Jun 2016, 1:02 p.m.
Added to this panel from the Manchester congenital cataracts gene panel. Not associated with a disease in G2P. Is associated with Ectopia lentis et pupillae and Ectopia lentis, isolated, autosomal recessive in OMIM, which can involve cataracts.
Created: 29 Apr 2016, 2:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Ectopia lentis, isolated, autosomal recessive
  • Ectopia lentis et pupillae
OMIM
610113
Clinvar variants
Variants in ADAMTSL4
Penetrance
Complete
Publications
  • Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633
  • Neuhann (2015) Am J Hum genet 167A:2376-2381
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ADAMTSL4 were set to Ectopia lentis, isolated, autosomal recessive; Ectopia lentis et pupillae;

25 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ADAMTSL4 were set to Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633; Neuhann (2015) Am J Hum genet 167A:2376-2381

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ADAMTSL4 was added to Cataractspanel. Sources: Expert list

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ADAMTSL4 was created by ellenmcdonagh