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| Growth failure in early childhood v3.52 | SHOC2 | Arina Puzriakova Phenotypes for gene: SHOC2 were changed from Noonan with loss of anagen hair; Noonan-like syndrome with loose anagen hair to Noonan syndrome-like with loose anagen hair 1, OMIM:607721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.57 | SHOC2 | Ivone Leong Publications for gene: SHOC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.27 | SHOC2 | Rebecca Foulger reviewed gene: SHOC2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19684605, 22528146, 23918763; Phenotypes: Noonan-like syndrome with loose anagen hair; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.26 | SHOC2 |
Rebecca Foulger Mode of pathogenicity for gene SHOC2 was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan-like syndrome with loose anagen hair for gene: SHOC2 |
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| Growth failure in early childhood v0.1 | SHOC2 |
Ellen McDonagh gene: SHOC2 was added gene: SHOC2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SHOC2 were set to Noonan with loss of anagen hair Mode of pathogenicity for gene: SHOC2 was set to Other - please provide details in the comments |
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