Rare anaemia

Gene: ATRX

Red List (low evidence)

ATRX (ATRX, chromatin remodeler)
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 15 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
Created: 22 Jul 2019, 3:32 p.m. | Last Modified: 22 Jul 2019, 3:32 p.m.
Panel Version: 0.52
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ATRX; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301040 Alpha-thalassemia/mental retardation syndrome; PMID(s): 11449489; 19444090; 17579672
Created: 8 Feb 2019, 3:49 p.m.

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 3:46 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
301040 Alpha-thalassemia/mental retardation syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • London South GLH
Phenotypes
  • 301040 Alpha-thalassemia/mental retardation syndrome
OMIM
300032
Clinvar variants
Variants in ATRX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: atrx has been classified as Red List (Low Evidence).

8 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ATRX. Mode of inheritance for gene ATRX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Feb 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX Publications for gene ATRX were changed from to 11449489; 17579672; 19444090

8 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATRX.

8 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ATRX was added gene: ATRX was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: ATRX was set to