Limb disordersGene: SMOC1
Genomics England clinical team notes - Agree with green rating. Microphthalmia plus limb defects
Created: 9 Sep 2018, 5:58 p.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.
Created: 9 Apr 2018, 4:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ophthalmo-acromelic syndrome; Microphthalmia with limb anomalies 206920
Ellen McDonagh: Sourced from Genetic Home Refe
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
This gene has been classified as Green List (High Evidence).
SMOC1 was added to Limb disorders panel. Sources: Other
SMOC1 was created by Ellen McDonagh