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| Ductal plate malformation v1.19 | CPT2 | Arina Puzriakova Phenotypes for gene: CPT2 were changed from CPT II deficiency, infantile (600649); CPT II deficiency, lethal neonatal (608836) to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.27 | CPT2 |
Ivone Leong Source Expert Review Red was added to CPT2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Ductal plate malformation v0.26 | CPT2 | Ivone Leong reviewed gene: CPT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.25 | CPT2 |
Ivone Leong gene: CPT2 was added gene: CPT2 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile (600649); CPT II deficiency, lethal neonatal (608836) |
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