AFF2

AF4/FMR2 family member 2
OMIM: 300806, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red AFF2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.155 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes FRAGILE X-E MENTAL RETARDATION SYNDROME
Green AFF2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual developmental disorder, X-linked 109, OMIM:309548 FRAXE intellectual disability, MONDO:0010659 Tags nucleotide-repeat-expansion
Green AFF2 in Intellectual disability Level 2: Developmental disorders Version 9.297 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes Intellectual developmental disorder, X-linked 109, OMIM:309548 FRAXE intellectual disability, MONDO:0010659 Tags nucleotide-repeat-expansion
Red AFF2_GCC STR in Intellectual disability Level 2: Developmental disorders Version 9.297 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes Intellectual developmental disorder, X-linked 109, OMIM:309548 FRAXE intellectual disability, MONDO:0010659 Tags STR NGS Not Validated