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  2. Syndromic Retinopathy
  3. ADAMTS18
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Syndromic Retinopathy

Gene: ADAMTS18

Green List (high evidence)
ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18)
EnsemblGeneIds (GRCh38): ENSG00000140873
EnsemblGeneIds (GRCh37): ENSG00000140873
OMIM: 607512, Gene2Phenotype
ADAMTS18 is in 2 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen Retina GCEP on 02/03/20222 - https://search.clinicalgenome.org/CCID:004057
Created: 6 May 2024, 1:13 a.m. | Last Modified: 6 May 2024, 1:13 a.m.
Panel Version: 0.208

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcornea-myopic chorioretinal atrophy (MONDO:0014195)

Publications

  • https://search.clinicalgenome.org/CCID:004057

Created: 6 May 2024, 1:13 a.m.
Last Modified: 6 May 2024, 1:13 a.m.
Panel version: 0.208

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • microcornea-myopic chorioretinal atrophy (MONDO:0014195)
OMIM
607512
Clinvar variants
Variants in ADAMTS18
Penetrance
None
Panels with this gene

History Filter Activity

7 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamts18 has been classified as Green List (High Evidence).

7 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADAMTS18 were changed from Microcornea, myopic chorioretinal atrophy, and telecanthus; Genetic Retinal Degeneration Conditions to microcornea-myopic chorioretinal atrophy (MONDO:0014195)

7 Feb 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ADAMTS18 was added gene: ADAMTS18 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS18 were set to Microcornea, myopic chorioretinal atrophy, and telecanthus; Genetic Retinal Degeneration Conditions