Genomics England

ATRX

ATRX, chromatin remodeler

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580, ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040
Green in Differences in sex development R-numbers: R146 Signed-off version 4.5	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation-hypotonic facies syndrome, X-linked 309580
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.134	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Alpha-thalassemia/mental retardation syndrome, 301040, Mental retardation-hypotonic facies syndrome, X-linked, 309580
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1, ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Alpha-thalassemia/mental retardation syndrome, 301040, Mental retardation-hypotonic facies syndrome, X-linked, 309580
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.41	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Mental retardation-hypotonic facies syndrome, X-linked, 309580 (Microcephaly), Alpha-thalassemia/mental retardation syndrome, 301040 (Microcephaly)