Structural eye disease
Gene: ESCO2EnsemblGeneIds (GRCh38): ENSG00000171320
EnsemblGeneIds (GRCh37): ENSG00000171320
OMIM: 609353, Gene2Phenotype
ESCO2 is in 11 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Schule reported one case with compound heterozygous variants and corneal clouding (segregating in parents). Vega reported 21 cases with corneal opacities among a cohort of 50+ cases with phocomelia or Robert's syndrome.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
SC Phocomelia Syndrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- London North GLH
- Phenotypes
-
- SC Phocomelia Syndrome, 269000
- OMIM
- 609353
- Clinvar variants
- Variants in ESCO2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Added New Source, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to ESCO2. Source NHS GMS was added to ESCO2. Publications for gene ESCO2 were changed from to 16380922; 19574259 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to ESCO2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ESCO2 was added gene: ESCO2 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESCO2 were set to SC Phocomelia Syndrome, 269000