Glaucoma (developmental)
Gene: ADAMTS10EnsemblGeneIds (GRCh38): ENSG00000142303
EnsemblGeneIds (GRCh37): ENSG00000142303
OMIM: 608990, Gene2Phenotype
ADAMTS10 is in 7 panels
4 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
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 describedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Weill-Marchesani syndrome 1, recessive
Publications
Ivone Leong (Genomics England Curator)
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 describedCreated: 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
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green review from expert, with current diagnostic testing. More than 3 families with Weill-Marchesani syndrome 1 reported for different biallelic variants.Created: 12 Apr 2017, 11:19 a.m.
Comment on list classification: Green review from expert, with current diagnostic testing. More than 3 families with Weill-Marchesani syndrome 1 reported for different biallelic variants.Created: 12 Apr 2017, 11:19 a.m.
Chris Campbell (NHS)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Weill-Marchesani syndrome 1, recessive
Publications
- 2540
- 6294
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- GDL Glaucoma panel
- Phenotypes
-
- Weill-Marchesani syndrome 1, recessive
- OMIM
- 608990
- Clinvar variants
- Variants in ADAMTS10
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Set publications
Chris Campbell (GEL)Publications for ADAMTS10 were set to 15368195; 18567016; 19836009
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ADAMTS10 were set to 2540; 6294; 15368195; 18567016;19836009
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ADAMTS10 were set to 2540; 6294; 15368195;18567016
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ADAMTS10 were set to 2540; 6294;15368195
Created
Chris Campbell (NHS)ADAMTS10 was created by Chricampbell
Added New Source
Chris Campbell (NHS)ADAMTS10 was added to Glaucoma (developmental)panel. Sources: GDL Glaucoma panel