1. Panels
  2. Structural eye disease
  3. ADAMTS10
Genes in panel
Prev Next
STRs in panel
Prev Next

Structural eye disease

Gene: ADAMTS10

Green List (high evidence)
ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10)
EnsemblGeneIds (GRCh38): ENSG00000142303
EnsemblGeneIds (GRCh37): ENSG00000142303
OMIM: 608990, Gene2Phenotype
ADAMTS10 is in 7 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

DB Associated with Ectopia Lentis and primary glaucoma, to our knowledge there is no evidence that it is involved in AMC. Dagoneau three families with Weill-Marchesani syndrome including ectopia lentis and developmental glaucoma, many other cases described
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Weill-Marchesani syndrome 1, recessive

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Associated with Ectopia Lentis and primary glaucoma, to our knowledge there is no evidence that it is involved in AMC. Dagoneau three families with Weill-Marchesani syndrome including ectopia lentis and developmental glaucoma, many other cases described
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Weill-Marchesani syndrome 1, recessive

Publications

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Weill-Marchesani syndrome 1, recessive
OMIM
608990
Clinvar variants
Variants in ADAMTS10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ADAMTS10. Added phenotypes Weill-Marchesani syndrome 1, recessive for gene: ADAMTS10

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ADAMTS10 was added gene: ADAMTS10 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS10 were set to 18567016; 19836009; 15368195 Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive