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Osteogenesis imperfecta

Gene: ATRX

No list

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

3 reviews

Christine Burren (University Hospitals Bristol NHS Foundation Trust)

Red List (low evidence)

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Remove from panel
Created: 27 Nov 2015, 3:04 p.m.

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

There is no evidence to support a causal role of this gene in this particular disease
Created: 6 Oct 2015, 11:19 a.m.

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

ATR-X syndrome


History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: ATRX.

12 May 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATRX was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory