1. Panels
  2. Glaucoma (developmental)
  3. SMOC1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Glaucoma (developmental)

Gene: SMOC1

Red List (low evidence)
SMOC1 (SPARC related modular calcium binding 1)
EnsemblGeneIds (GRCh38): ENSG00000198732
EnsemblGeneIds (GRCh37): ENSG00000198732
OMIM: 608488, Gene2Phenotype
SMOC1 is in 10 panels

2 reviews

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

Green List (high evidence)

Okada et al.2011 reported 3 families, Abuzeid (2011) one family
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia with limb anomalies, 206920

Publications

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

Panel version: Imported from Structural eye disease 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). Okada et al.2011 reported 3 families, Abuzeid (2011) one family
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia with limb anomalies, 206920

Publications

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

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

Panel version: Imported from Structural eye disease panel version 0.38

History Filter Activity

27 Apr 2017, Gel status: 1

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.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

SMOC1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory