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Mendeliome v0.13791 | BMPR1B | Ain Roesley Phenotypes for gene: BMPR1B were changed from Acromesomelic dysplasia, Demirhan type, MIM# 609441; Brachydactyly, type A1, D, MIM# 616849; Brachydactyly, type A2, MIM# 112600 to Acromesomelic dysplasia, Demirhan type, MIM# 609441; Brachydactyly, type A1, D, MIM# 616849; Brachydactyly, type A2, MIM# 112600; coloboma MONDO#0001476, BMPR1B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.13790 | BMPR1B | Ain Roesley Publications for gene: BMPR1B were set to 15805157; 24129431; 26105076; 25758993; 14523231; 14523231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.13789 | BMPR1B | Ain Roesley reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35034853; Phenotypes: coloboma MONDO#0001476, BMPR1B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.9688 | BMPR1B | Zornitza Stark Marked gene: BMPR1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.9688 | BMPR1B | Zornitza Stark Gene: bmpr1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.9688 | BMPR1B | Zornitza Stark Phenotypes for gene: BMPR1B were changed from to Acromesomelic dysplasia, Demirhan type, MIM# 609441; Brachydactyly, type A1, D, MIM# 616849; Brachydactyly, type A2, MIM# 112600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.9687 | BMPR1B | Zornitza Stark Publications for gene: BMPR1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.9686 | BMPR1B | Zornitza Stark Mode of inheritance for gene: BMPR1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.9685 | BMPR1B | Zornitza Stark reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805157, 24129431, 26105076, 25758993, 14523231, 14523231; Phenotypes: Acromesomelic dysplasia, Demirhan type, MIM# 609441, Brachydactyly, type A1, D, MIM# 616849, Brachydactyly, type A2, MIM# 112600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.0 | BMPR1B |
Zornitza Stark gene: BMPR1B was added gene: BMPR1B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BMPR1B was set to Unknown |