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| DDG2P v3.12 | NFIB | Achchuthan Shanmugasundram reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388402; Phenotypes: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT, OMIM:618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NFIB |
Achchuthan Shanmugasundram Source Expert Review Green was added to NFIB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.26 | NFIB | Rebecca Foulger Phenotypes for gene: NFIB were changed from Intellectual disability with macrocephaly to Intellectual disability with macrocephaly; Intellectual Disability and Macrocephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.25 | NFIB | Rebecca Foulger commented on gene: NFIB: New gene:disorder association added to DDG2P in March 2019: Intellectual Disability and Macrocephaly. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic. Note that at the time of curation, the existing disorder 'Intellectual Disability and macrocephaly' exists in DD-G2P as a separate entry. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | NFIB | Rebecca Foulger reviewed gene: NFIB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.8 | NFIB |
Rebecca Foulger gene: NFIB was added gene: NFIB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFIB were set to 30388402 Phenotypes for gene: NFIB were set to Intellectual disability with macrocephaly |
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