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Ductal plate malformation v1.11 | NOP10 | Arina Puzriakova Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1 (224230) to Dyskeratosis congenita, autosomal recessive 1, 224230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.27 | NOP10 |
Ivone Leong Source Expert Review Red was added to NOP10. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.26 | NOP10 | Ivone Leong reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.2 | NOP10 |
Ivone Leong gene: NOP10 was added gene: NOP10 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NOP10 were set to Dyskeratosis congenita, autosomal recessive 1 (224230) |