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| Mendeliome v2.408 | BMP2 downstream regulatory region |
Sarah Milton Region: BMP2 downstream regulatory region was added Region: BMP2 downstream regulatory region was added to Mendeliome. Sources: Literature regulatory region tags were added to Region: BMP2 downstream regulatory region. Mode of inheritance for Region: BMP2 downstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: BMP2 downstream regulatory region were set to 19327734; 24710560; 35227291; 21357617 Phenotypes for Region: BMP2 downstream regulatory region were set to Brachydactyly, type A2 MIM#112600 Added comment: BMP2 is part of the TGFb family and is a signalling protein primarily involved in promoting bone and cartilage formation. Duplications in an evolutionary well conserved agenic region downstream of BMP2 have been reported in at least 5 unrelated families, with over 50 affected individuals presenting with brachydactyly type A2 characterised by by hypoplastic or aplastic middle phalanges of the second and fifth finger. Duplications ranged from 4.6kb to 6.3mb and were generally located 110kb downstream of BMP2. The molecular mechanism is postulated to be duplication of a cis acting limb specific enhancer resulting in altered equilibrium between GDF5 and BMPR1B and overall reduced BMPR1B signalling. Note: The minimum duplication coordinates seen in an affected individual have been used for this entry. Sources: Literature |
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| Mendeliome v2.0 | GDF5 | Gene migrated from ENSG00000125965 to ENSG00000125965 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4229 | GDF5 | Zornitza Stark Phenotypes for gene: GDF5 were changed from Brachydactyly MONDO:0021004, GDF5-related; Acromelic dysplasia MONDO:0019695, GDF5-related; Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298) to Brachydactyly MONDO:0021004, GDF5-related; Acromelic dysplasia MONDO:0019695, GDF5-related; Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4208 | GDF5 | Lucy Spencer Phenotypes for gene: GDF5 were changed from Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298) to Brachydactyly MONDO:0021004, GDF5-related; Acromelic dysplasia MONDO:0019695, GDF5-related; Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4207 | GDF5 | Lucy Spencer reviewed gene: GDF5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly MONDO:0021004, GDF5-related, Acromelic dysplasia MONDO:0019695, GDF5-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6660 | GDF5 | Michelle Torres reviewed gene: GDF5: Rating: RED; Mode of pathogenicity: None; Publications: 8589725, 33333243; Phenotypes: ? Hunter-Thompson type acromesomelic dysplasia (MIM#201250) AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6555 | GDF5 | Zornitza Stark Marked gene: GDF5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6555 | GDF5 | Zornitza Stark Gene: gdf5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6555 | GDF5 | Zornitza Stark Phenotypes for gene: GDF5 were changed from to Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6554 | GDF5 | Zornitza Stark reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Type A1C brachydactyly (MIM#615072), Type A2 brachydactyly, (MIM#112600), Type C brachydactyly (MIM#113100), Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900), Multiple synostoses syndrome 2 (MIM#610017), Proximal Symphalangism 1B (MIM#615298); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6554 | GDF5 | Zornitza Stark Publications for gene: GDF5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6553 | GDF5 | Zornitza Stark Mode of inheritance for gene: GDF5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6539 | GDF5 | Ain Roesley reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33333243; Phenotypes: Type A1C brachydactyly (MIM#615072), Type A2 brachydactyly, (MIM#112600), Type C brachydactyly (MIM#113100), Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900), Multiple synostoses syndrome 2 (MIM#610017), Proximal Symphalangism 1B (MIM#615298); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | GDF5 |
Zornitza Stark gene: GDF5 was added gene: GDF5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GDF5 was set to Unknown |
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