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| Growth failure in early childhood v3.94 | PCNT | Arina Puzriakova Phenotypes for gene: PCNT were changed from MOPDII; Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.23 | PCNT | Rebecca Foulger reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.22 | PCNT |
Rebecca Foulger Source Expert Review Red was added to PCNT. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Growth failure in early childhood v0.17 | PCNT | Ivone Leong reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MOPDII; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.16 | PCNT |
Ivone Leong Source Expert list was added to PCNT. Added phenotypes MOPDII for gene: PCNT |
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| Growth failure in early childhood v0.13 | PCNT | Ivone Leong Publications for gene: PCNT were set to 18157127, 18174396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.12 | PCNT | Ivone Leong Phenotypes for gene: PCNT were changed from Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance to Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.1 | PCNT |
Ellen McDonagh gene: PCNT was added gene: PCNT was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCNT were set to 18157127, 18174396 Phenotypes for gene: PCNT were set to Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance |
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