Skeletal dysplasia
Gene: WNT1
OI and decreasing bone density gp of SD, green - many recessive variants identified; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
OI/osteoporosis; Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221; osteogenesis imperfecta
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: WNT1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XV 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant} 615221
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: WNT1 were set to 23499309; 23499310; 23434763; 23656646
Publications for gene: WNT1 were set to 34875064
Publications for gene: WNT1 were set to 34875064
Publications for gene: WNT1 were set to
Phenotypes for gene: WNT1 were changed from {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221; Osteogenesis imperfecta, type XV, 615220 to {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221; Osteogenesis imperfecta, type XV, OMIM:615220
Phenotypes for gene: WNT1 were changed from osteogenesis imperfecta; OI/osteoporosis; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221; Osteogenesis imperfecta, type XV, 615220 to {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221; Osteogenesis imperfecta, type XV, 615220
Added phenotypes osteogenesis imperfecta; OI/osteoporosis; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221; Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
Source NHS GMS was added to WNT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
WNT1 was added to Unexplained skeletal dysplasiapanel. Source: Expert WNT1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen WNT1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene WNT1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
WNT1 was created by sleigh
WNT1 was added to Unexplained skeletal dysplasiapanel. Sources: