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| DDG2P v3.12 | NFIA | Achchuthan Shanmugasundram reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17530927; Phenotypes: Macrocephaly with intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NFIA |
Achchuthan Shanmugasundram Source Expert Review Green was added to NFIA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.24 | NFIA | Rebecca Foulger Classified gene: NFIA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.24 | NFIA | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect DD-G2P update. Previously rated Amber based on a 'possible' DD-G2P rating for CHROMOSOME 1P32-P31 DELETION SYNDROME. Now (January 8th 2019) rated Probable for 'Macrocephaly with intellectual disability'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.24 | NFIA | Rebecca Foulger Gene: nfia has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.23 | NFIA | Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype to reflect DD-G2P update. Previous phenotype was CHROMOSOME 1P32-P31 DELETION SYNDROME 613735. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.23 | NFIA | Rebecca Foulger Phenotypes for gene: NFIA were changed from CHROMOSOME 1P32-P31 DELETION SYNDROME 613735 to Macrocephaly with intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NFIA | Rebecca Foulger reviewed gene: NFIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NFIA |
Rebecca Foulger gene: NFIA was added gene: NFIA was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFIA were set to 17530927 Phenotypes for gene: NFIA were set to CHROMOSOME 1P32-P31 DELETION SYNDROME 613735 |
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