Cancer Predisposition_Paediatric
Gene: ATRX
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: LiteratureCreated: 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
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.
Gene: atrx has been classified as Green List (High Evidence).
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.
Gene: atrx has been classified as Green List (High Evidence).
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