Angelman Rett like syndromes
Gene: ATRX
Well established gene-disease association.Created: 6 Jun 2021, 5:16 a.m. | Last Modified: 6 Jun 2021, 5:16 a.m.
Panel Version: 0.70
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
ATR-X-related syndrome MONDO:0016980
Publications
Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980
Gene: atrx has been classified as Green List (High Evidence).
Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580
Publications for gene: ATRX were set to
Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
gene: ATRX was added gene: ATRX was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATRX was set to Unknown