| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v0.420 | POC1A | Chirag Patel Marked gene: POC1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.420 | POC1A | Chirag Patel Gene: poc1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.420 | POC1A | Chirag Patel Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.420 | POC1A | Chirag Patel Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.420 | POC1A | Chirag Patel Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.420 | POC1A | Chirag Patel Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.420 | POC1A | Chirag Patel Phenotypes for gene: POC1A were changed from Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.419 | POC1A | Chirag Patel Phenotypes for gene: POC1A were changed from Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813; Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 to Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.419 | POC1A | Chirag Patel Publications for gene: POC1A were set to 22840364; 22840363; 26374189; 26162852; 26791357; 39662966 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.419 | POC1A | Chirag Patel Publications for gene: POC1A were set to 26374189; 26162852; 26336158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.418 | POC1A | Chirag Patel reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 39662966; Phenotypes: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | POC1A |
Zornitza Stark gene: POC1A was added gene: POC1A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC1A were set to 26374189; 26162852; 26336158 Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813; Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 |
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