1. Panels
  2. Skeletal dysplasia
  3. SMOC1
Genes in panel
Prev Next
STRs in panel
Prev Next

Skeletal dysplasia

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

At least 3 families. Clinical features include limb anomalies, mainly in distal part.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ophthalmo-acromelic syndrome; Microphthalmia with limb anomalies 206920; Polydactyly

Publications

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SMOC1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.
Comment on list classification: Rated green as sufficient number of cases/families. Reviewed by Genomics England clinical team as appropriate for this panel.
Created: 11 Sep 2018, 9:38 a.m.
Sourced from Genetic Home Reference. >3 cases/family reports for homozygous loss of function variants in this gene, in affacted individuals with microphthalmia with limb anomalies (see publications). This is a confirmed DD gene for OPHTHALMOACROMELIC SYNDROME. HPO terms from Gene2Phenotype include
Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Hand oligodactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Toe syndactyly.
Sources: Expert Review
Created: 11 Sep 2018, 9:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ophthalmo-acromelic syndrome; Microphthalmia with limb anomalies 206920; Polydactyly

Publications

Created: 11 Sep 2018, 9:36 a.m.

Panel version: 1.146

Details

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

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Microphthalmia with limb anomalies 206920; Ophthalmo-acromelic syndrome; Polydactyly for gene: SMOC1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SMOC1. Rating Changed from Green List (high evidence) to Green List (high evidence)

11 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: smoc1 has been classified as Green List (High Evidence).

11 Sep 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SMOC1 was added gene: SMOC1 was added to Unexplained skeletal dysplasia. Sources: Expert Review Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMOC1 were set to 21194678; 21194680 Phenotypes for gene: SMOC1 were set to Ophthalmo-acromelic syndrome; Microphthalmia with limb anomalies 206920; Polydactyly Review for gene: SMOC1 was set to GREEN