Activity
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3 actions
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| Skeletal dysplasia v2.168 | PDIA6 | Eleanor Williams commented on gene: PDIA6: Added this gene to this panel on advice from Genomics England clinical team. Rating amber as 1 case plus functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.168 | PDIA6 | Eleanor Williams Entity copied from Skeletal ciliopathies v1.15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.168 | PDIA6 |
Eleanor Williams gene: PDIA6 was added gene: PDIA6 was added to Skeletal dysplasia. Sources: Literature,Expert Review Amber Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDIA6 were set to 33495992 Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes |
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