SERPINF1

serpin family F member 1
OMIM: 172860, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red SERPINF1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.244

1 review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green SERPINF1 in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type VI, MIM# 613982

Green SERPINF1 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 1.16

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type VI, MIM# 613982

Green SERPINF1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.364

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • OI/osteoporosis
  • osteogenesis imperfecta
  • Osteogenesis Imperfecta, Recessive
  • Osteogenesis imperfecta, type VI, 613982

Green SERPINF1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.111

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteogenesis imperfecta, type VI, 613982 (3)

Red SERPINF1 in Fetal anomalies


Version 1.481

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Osteogenesis imperfecta, type VI, OMIM:613982
  • Osteogenesis imperfecta type 6, MONDO:0013515

Green SERPINF1 in Prepair 1000+


Level 2: Screening
Version 2.15

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteogenesis imperfecta, type VI, MIM# 613982
  • MONDO:0013515

Green SERPINF1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteogenesis imperfecta, type VI, MIM# 613982
Tags
  • treatable
  • skeletal

Green SERPINF1 in Transplant Co-Morbidity


Level 2: Screening
Version 0.20

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type VI, MIM# 613982