IFITM5:Ensemblv90

interferon induced transmembrane protein 5
OMIM: 614757, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green IFITM5 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.244

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

Green IFITM5 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type V MIM#610967
Tags
  • 5'UTR

Green IFITM5 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 1.16

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta type V, MIM#610967

Green IFITM5 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis imperfecta, type V MIM#610967
Tags
  • 5'UTR

Green IFITM5 in Fetal anomalies


Version 1.482

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Osteogenesis imperfecta, type V MIM#610967
Tags
  • 5'UTR

Green IFITM5 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteogenesis imperfecta, type V MIM#610967
Tags
  • 5'UTR
  • treatable
  • skeletal

Green IFITM5 in Transplant Co-Morbidity


Level 2: Screening
Version 0.20

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta type V, MIM#610967

Green IFITM5 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

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

Green IFITM5 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta type V, MIM#610967

Green IFITM5 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type V MIM#610967
Tags
  • 5'UTR

Green IFITM5 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type V MIM#610967
Tags
  • 5'UTR

Green IFITM5 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type V MIM#610967
Tags
  • 5'UTR
  • treatable
  • skeletal

Green IFITM5 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta type V, MIM#610967