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Limb disorders

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

Eleanor Williams (Genomics England Curator)

Genomics England clinical team notes - Agree with green rating. Microphthalmia plus limb defects
Created: 9 Sep 2018, 5:58 p.m.

Ellen McDonagh (Genomics England Curator)

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.
Created: 9 Apr 2018, 4:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ophthalmo-acromelic syndrome; Microphthalmia with limb anomalies 206920

Publications

Details

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

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Sourced from Genetic Home Refe

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SMOC1. Panel: Limb disorders Phenotypes for gene SMOC1 were set to Ophthalmo-acromelic syndrome, Microphthalmia with limb anomalies 206920, Polydactyly

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMOC1 was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SMOC1 was created by Ellen McDonagh