1. Panels
  2. Cytopenias and congenital anaemias
  3. ALDOA
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Cytopenias and congenital anaemias

Gene: ALDOA

Green List (high evidence)
ALDOA (aldolase, fructose-bisphosphate A)
EnsemblGeneIds (GRCh38): ENSG00000149925
EnsemblGeneIds (GRCh37): ENSG00000149925
OMIM: 103850, Gene2Phenotype
ALDOA is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment 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 relevant
Created: 3 Mar 2017, 8:02 p.m.
Created: 3 Mar 2017, 8:02 p.m.

Panel version: 0.365

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Created: 16 Jan 2017, 3:45 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Enzyme Disorder
  • Glycogen storage disease
  • Glycogen storage disease XII, 611881
  • Aldolase A deficiency
  • Glycogen storage disease due to aldolase A deficiency
OMIM
103850
Clinvar variants
Variants in ALDOA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

3 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

3 Mar 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ALDOA were set to 2825199;14615364;8598869

3 Mar 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

3 Mar 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ALDOA were set to

3 Mar 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

ALDOA was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

3 Mar 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ALDOA were set to Enzyme Disorder; Glycogen storage disease; Glycogen storage disease XII, 611881; Aldolase A deficiency

3 Mar 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ALDOA were set to Enzyme Disorder; Glycogen storage disease;Glycogen storage disease XII, 611881

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

ALDOA was created by LouiseD

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

ALDOA was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)