AFF2

AF4/FMR2 family member 2
OMIM: 300806, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green AFF2 in Mendeliome Version 1.3512	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, X-linked, FRAXE type, MIM#309548 Tags SV/CNV STR
Green AFF2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability, X-linked, FRAXE type 309548
Red AFF2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Phenotypes Mental retardation, X-linked, FRAXE type, #309548
Red AFF2 in Fetal anomalies Version 1.465	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Mental retardation, X-linked, FRAXE type 309548 Tags SV/CNV STR
Amber AFF2 in Prepair 1000+ Level 2: Screening Version 2.14	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Review Phenotypes Intellectual disability, X-linked, FRAXE type 309548
Green AFF2_FRAXE_GCC STR in Mendeliome Version 1.3512	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder, X-linked 109 MIM#309548
Green AFF2_FRAXE_GCC STR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Fragile X syndrome, FRAXE type (OMIM 309548) Tags STR
Green AFF2_FRAXE_GCC STR in Repeat Disorders Version 0.269	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder, X-linked 109 MIM#309548 Tags paediatric-onset