Research panel - Severe Paediatric Disorders
Gene: ATRX

ATRX (ATRX, chromatin remodeler)
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ATRX; Recommended initial gene rating: Green List (high evidence); Phenotypes: Alpha-thalassemia/mental retardation syndrome, 301040 (3) | Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3); Mode of inheritance: X-linked dominant | X-linked recessive
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:16 p.m.
Last Modified: 20 Feb 2020, 5:16 p.m.
Panel version: 0.12

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Alpha-thalassemia/mental retardation syndrome, 301040
Mental retardation-hypotonic facies syndrome, X-linked, 309580

OMIM

300032

Clinvar variants

Variants in ATRX

Penetrance

None

Publications

30847515

Panels with this gene