Growth failure in early childhood
Gene: FANCL
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia; Fanconi anemia, complementation group L, 614083; 614083Fanconi anemia, complementation group L
Publications
Phenotypes for gene: FANCL were changed from Fanconi anemia; Fanconi anemia, complementation group L, 614083; 614083Fanconi anemia, complementation group L; Fanconi Anemia to Fanconi anemia, complementation group L, OMIM:614083
Publications for gene: FANCL were set to
Added phenotypes Fanconi anemia, complementation group L, 614083; 614083Fanconi anemia, complementation group L; Fanconi Anemia for gene: FANCL
gene: FANCL was added gene: FANCL was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083; Fanconi Anemia; Fanconi anemia