GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: BMP2
Brachydactyly type A2 is included in brachydactylies (without extraskeletal manifestations) gp of SD. Brachydactyly type A2 associated with duplications 110kb downstream of BMP2 in 3 families. MIM 617877 not listed in SD nosology paper - 6 unrelated families reported by Tan et al 2017. Plus overlapping microdeletions in 2 further cases. AD; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brachydactyly, type A2 112600; {HFE hemochromatosis, modifier of} 235200; short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.
Publications
gene: BMP2 was added gene: BMP2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BMP2 were set to short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.; Brachydactyly, type A2 112600; {HFE hemochromatosis, modifier of} 235200