Cytopenias and congenital anaemias
Gene: ALDOAComment on publications: PMID:2825199 (1 affected), PMID:14615364 (1 affected), PMID:8598869 (1 affected).Created: 3 Mar 2017, 8:18 p.m.
Comment on publications: PMID:7560104 is not relevantCreated: 3 Mar 2017, 8:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enzyme Disorder; Glycogen storage disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for ALDOA were set to 2825199;14615364;8598869
Phenotypes for ALDOA were set to Enzyme Disorder; Glycogen storage disease; Glycogen storage disease XII, 611881; Aldolase A deficiency;Glycogen storage disease due to aldolase A deficiency
Publications for ALDOA were set to
ALDOA was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Phenotypes for ALDOA were set to Enzyme Disorder; Glycogen storage disease; Glycogen storage disease XII, 611881; Aldolase A deficiency
Phenotypes for ALDOA were set to Enzyme Disorder; Glycogen storage disease;Glycogen storage disease XII, 611881
ALDOA was created by LouiseD
ALDOA was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)