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Growth failure in early childhood v2.33 | RASA2 | Catherine Snow commented on gene: RASA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.32 | RASA2 | Catherine Snow Source NHS GMS was added to RASA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.25 | RASA2 | Arina Puzriakova Publications for gene: RASA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.22 | RASA2 | Arina Puzriakova Classified gene: RASA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.22 | RASA2 | Arina Puzriakova Added comment: Comment on list classification: Three unrelated cases reported to date (PMID: 25049390) but very limited details and no segregation data. Not associated with any phenotype in OMIM or G2P, and rated LIMITED by ClinGen. Rating Amber, awaiting additional publications/clinical evidence to corroborate causality. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.22 | RASA2 | Arina Puzriakova Gene: rasa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.21 | RASA2 | Arina Puzriakova Phenotypes for gene: RASA2 were changed from to Noonan syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.20 | RASA2 | Arina Puzriakova Mode of inheritance for gene: RASA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | RASA2 | Eleanor Williams reviewed gene: RASA2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.4 | RASA2 |
Eleanor Williams gene: RASA2 was added gene: RASA2 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: RASA2 was set to |