SMOC1

SPARC related modular calcium binding 1
OMIM: 608488, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SMOC1 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia with limb anomalies, MIM# 206920

Green SMOC1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia with limb anomalies, MIM# 206920

Green SMOC1 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.276

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SMOC1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Microphthalmia with limb anomalies, MIM# 206920

    Green SMOC1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ophthalmo-acromelic syndrome
    • Polydactyly
    • Microphthalmia with limb anomalies 206920

    Red SMOC1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • MLA
    • MICROPHTHALMIA WITH LIMB ANOMALIES

    Green SMOC1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Microphthalmia with limb anomalies, MIM# 206920