WNT1

Wnt family member 1
OMIM: 164820, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green WNT1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.244

2 reviews Unknown
Sources
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Red WNT1 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XV (MIM#615220)

Green WNT1 in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XV, MIM# 615220
  • Osteoporosis MONDO:0005298

Green WNT1 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 1.16

2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XV, MIM# 615220
  • Osteoporosis MONDO:0005298

Green WNT1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.507

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteogenesis imperfecta, type XV
  • OMIM# 615220

Green WNT1 in Skeletal dysplasia

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

1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • OI/osteoporosis
  • osteogenesis imperfecta
  • Osteogenesis imperfecta, type XV, 615220
  • {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221

Green WNT1 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 XV, 615220 (3)

Green WNT1 in Fetal anomalies


Version 1.482

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XV, OMIM:615220

Green WNT1 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 XV, 615220 (3)

Green WNT1 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 XV, MIM# 615220