Congenital neutropaeniaGene: SLC37A4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
glycogen storage disease with or without neutropenia
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Two expert reviewers recommend Green, Found in 3/4 sources. Numerous variants reported in literature.
Created: 25 May 2016, 9:49 a.m.
Phenotypes for SLC37A4 were set to Glycogen storage disease Ib 232220
SLC37A4 was added to Congenital neutropaeniapanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
This gene has been removed from the panel.
Publications for SLC37A4 were set to 12576310; 9428641; 10482962]
Phenotypes for SLC37A4 were set to Neutropenia Glycogen storage disease Ib, 232220
Mode of inheritance for SLC37A4 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC37A4 was added to Congenital neutropaeniapanel. Sources: Literature