FANCE

Fanconi anemia complementation group E
OMIM: 613976, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green FANCE in Bone Marrow Failure Level 2: Haematological disorders Version 1.112 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953
Green FANCE in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953
Green FANCE in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953
Green FANCE in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.295	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group E, MIM#600901
Green FANCE in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green FANCE in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.15 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953
Green FANCE in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group E, 600901 (3)
Red FANCE in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Fanconi anaemia
Green FANCE in Growth failure Version 1.76	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953
Green FANCE in Fetal anomalies Version 1.313	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953
Green FANCE in IBMDx study Version 0.33	1 review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953
Green FANCE in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group E, MIM#600901
Red FANCE in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red BeginNGS Phenotypes Fanconi anaemia Fanconi anaemia, MIM#600901
Green FANCE in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group E, 600901 (3)