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Intellectual disability v2.959 ATRX Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of inheritance from XLR to XLD: Alpha-thalassemia/mental retardation syndrome, 301040 is listed as XLD in OMIM (in addition to Mental retardation-hypotonic facies syndrome, X-linked, 309580 listed as XLR). Although PMID:17503331 report that nearly all female carriers of ATRX syndrome have highly skewed X-chromosome inactivation in favour of cells expressing the normal ATRX allele and are essentially phenotypically normal, PMID:16955409 report a female carrier where the chromosome carrying the mutant allele was active and she therefore showed a phenotype.
Intellectual disability v2.959 ATRX Rebecca Foulger Mode of inheritance for gene: ATRX was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v2.958 ATRX Rebecca Foulger Publications for gene: ATRX were set to 25529582; 24896178; 26860117; 26997013; 10995512; 7697714; 12116232; 15565397; 8644709; 9244431; 9598720
Intellectual disability v2.957 ATRX Rebecca Foulger commented on gene: ATRX: PMID:16955409: Badens et al. 2006 report a 4 year old female with a heterozygous R246C variant in ATRX and a skewed pattern of X-inactivation where her maternally-inherited X chromosome that carried the de novo variant remained active. Clinical features included severed DD.
Intellectual disability v2.957 ATRX Rebecca Foulger commented on gene: ATRX
Intellectual disability v2.957 ATRX Rebecca Foulger Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, 301040Alpha-thalassemia myelodysplasia syndrome, somatic, 300448Mental retardation-hypotonic facies syndrome, X-linked, 309580; MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 (MRXSHF1) to Alpha-thalassemia/mental retardation syndrome, 301040; Mental retardation-hypotonic facies syndrome, X-linked, 309580
Intellectual disability v2.956 ATRX Rebecca Foulger Publications for gene: ATRX were set to
Intellectual disability v2.468 ATRX Louise Daugherty Source Victorian Clinical Genetics Services was added to ATRX.
Intellectual disability ATRX BRIDGE consortium edited their review of ATRX
Intellectual disability ATRX BRIDGE consortium edited their review of ATRX
Intellectual disability ATRX BRIDGE consortium reviewed ATRX