1. Panels
  2. Structural eye disease
  3. SMOC1
Genes in panel
Prev Next
STRs in panel
Prev Next

Structural eye disease

Gene: SMOC1

Green List (high 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: 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: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Microphthalmia with limb anomalies, 206920
OMIM
608488
Clinvar variants
Variants in SMOC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SMOC1. Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1 Publications for gene SMOC1 were changed from to 30445150; 21194678; 21194680

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SMOC1 was added gene: SMOC1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMOC1 were set to Microphthalmia with limb anomalies, 206920