1. Genes and Genomic Entities
  2. SMOC1

SMOC1

SPARC related modular calcium binding 1
OMIM: 608488, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red SMOC1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green SMOC1 in Limb disorders


Level 2: Musculoskeletal
Version 9.1
Latest signed off version: v9.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Other
    Phenotypes
    • Ophthalmo-acromelic syndrome
    • Microphthalmia with limb anomalies 206920
    • Polydactyly
    Green SMOC1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 10.1
    Latest signed off version: v10.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Microphthalmia with limb anomalies 206920
    • Ophthalmo-acromelic syndrome
    • Polydactyly
    Green SMOC1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OPHTHALMOACROMELIC SYNDROME
    Green SMOC1 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OPHTHALMOACROMELIC SYNDROME 206920
    Red SMOC1 in Clefting


    Level 2: Musculoskeletal
    Version 7.9
    Latest signed off version: v7.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • MICROPHTHALMIA WITH LIMB ANOMALIES
    • MLA
    Green SMOC1 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.57

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Microphthalmia with limb anomalies, 206920
    Green SMOC1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Microphthalmia with limb anomalies, 206920
    • OPHTHALMOACROMELIC SYNDROME (OAS)
    Red SMOC1 in Retinal disorders


    Level 2: Ophthalmology
    Version 9.15
    Latest signed off version: v9.14 (12 Aug 2026)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    Green SMOC1 in Structural eye disease


    Level 2: Ophthalmology
    Version 5.8
    Latest signed off version: v5.7 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Microphthalmia with limb anomalies, 206920