Skeletal dysplasia
Gene: SMOC1
At least 3 families. Clinical features include limb anomalies, mainly in distal part.; Review on behalf of Tracy LesterCreated: 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
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: greenCreated: 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 ReviewCreated: 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
Added phenotypes Microphthalmia with limb anomalies 206920; Ophthalmo-acromelic syndrome; Polydactyly for gene: SMOC1
Source NHS GMS was added to SMOC1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: smoc1 has been classified as Green List (High Evidence).
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