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| DDG2P v3.12 | NBAS | Achchuthan Shanmugasundram reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26073778; Phenotypes: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, OMIM:616483, ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.112 | NBAS | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD: confirmed. DDG2P Mode of Pathogenicity: loss of function; DDG2P Mode of Inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.112 | NBAS | Rebecca Foulger commented on gene: NBAS: New gene:disorder association added to DDG2P for NBAS, September 2019: ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY. Disease confidence rating in DDG2P: confirmed; DDG2P mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.112 | NBAS | Rebecca Foulger Phenotypes for gene: NBAS were changed from ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 616483 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NBAS | Rebecca Foulger reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NBAS |
Rebecca Foulger gene: NBAS was added gene: NBAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 26073778 Phenotypes for gene: NBAS were set to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD |
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