Cancer Predisposition_Paediatric

Gene: ATRX

Green List (high evidence)

ATRX (ATRX, chromatin remodeler)
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 20 panels

1 review

Laura Raiti (Royal Children's Hospital, Melbourne)

Green List (high evidence)

Early onset osteosarcoma and development of metachronous osteosarcoma tumours suggestive of cancer predisposition.
Small numbers but at least 3 unrelated individuals reported in literature.
Sources: Literature
Created: 21 Jul 2023, 6:10 a.m.

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

Phenotypes
Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies.

Publications

History Filter Activity

3 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATRX were changed from Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. to ATR-X-related syndrome MONDO:0016980; Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies.

21 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atrx has been classified as Green List (High Evidence).

21 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATRX were changed from Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. to Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies.

21 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atrx has been classified as Green List (High Evidence).

21 Jul 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Laura Raiti (Royal Children's Hospital, Melbourne)

gene: ATRX was added gene: ATRX was added to Cancer Predisposition_Paediatric. Sources: Literature Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATRX were set to PMID: 28371217, 29706636, 28371197 Phenotypes for gene: ATRX were set to Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. Penetrance for gene: ATRX were set to unknown Review for gene: ATRX was set to GREEN