SPARC

secreted protein acidic and cysteine rich
OMIM: 182120, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SPARC in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVII, MIM# 616507

Green SPARC in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders
Version 0.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVII, MIM# 616507

Green SPARC 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 list
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVII 616507

Red SPARC in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Osteogenesis imperfecta, type XVII, OMIM:616507
  • Osteogenesis imperfecta type 17, MONDO:0014672

Red SPARC in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Osteogenesis imperfecta, type XVII, MIM# 616507
Tags
  • skeletal

Green SPARC in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVII, MIM# 616507