AFF4:Ensemblv90

AF4/FMR2 family member 4
OMIM: 604417, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green AFF4 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.511	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes CHOPS syndrome, MIM# 616368 ventricular septal defect patent ductus arteriosus patent foramen ovale
Green AFF4 in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.47	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CHOPS syndrome, MIM#616368 MONDO:0014609
Green AFF4 in Mendeliome Version 1.3802	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CHOPS syndrome, MIM#616368 MONDO:0014609
Green AFF4 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.178	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes CHOPS syndrome, MIM# 616368
Green AFF4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes CHOPS syndrome, MIM#616368 MONDO:0014609
Green AFF4 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.365	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Victorian Clinical Genetics Services Phenotypes CHOPS syndrome MIM#616368
Green AFF4 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.80 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Other Expert Review Green Victorian Clinical Genetics Services Phenotypes CHOPS syndrome MIM#616368
Green AFF4 in Fetal anomalies Version 1.482	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes CHOPS syndrome, MIM#616368 MONDO:0014609
Green AFF4 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Expert Review Green Phenotypes CHOPS syndrome, MIM# 616368 ventricular septal defect patent ductus arteriosus patent foramen ovale
Green AFF4 in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes CHOPS syndrome, MIM#616368 MONDO:0014609
Green AFF4 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes CHOPS syndrome, MIM# 616368
Green AFF4 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Other Expert Review Green Phenotypes CHOPS syndrome MIM#616368
Green AFF4 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Other Expert Review Green Expert Review Green Expert list Phenotypes CHOPS syndrome MIM#616368