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  2. Structural eye disease
  3. ADAM9
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Structural eye disease

Gene: ADAM9

Red List (low evidence)
ADAM9 (ADAM metallopeptidase domain 9)
EnsemblGeneIds (GRCh38): ENSG00000168615
EnsemblGeneIds (GRCh37): ENSG00000168615
OMIM: 602713, Gene2Phenotype
ADAM9 is in 3 panels

2 reviews

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

Red List (low evidence)

El Haig: one case with cataract and coloboma
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 9; 612775

Publications

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

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). El Haig: one case with cataract and coloboma
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 9, 612775

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 Red
Phenotypes
  • Cone-rod dystrophy 9, 612775
  • Eye Disorders
OMIM
602713
Clinvar variants
Variants in ADAM9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ADAM9. Mode of inheritance for gene ADAM9 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 9, 612775 for gene: ADAM9 Publications for gene ADAM9 were changed from to 25091951

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ADAM9 was added gene: ADAM9 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ADAM9 was set to Phenotypes for gene: ADAM9 were set to Eye Disorders