EFEMP2

EGF containing fibulin extracellular matrix protein 2
OMIM: 604633, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green EFEMP2 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type IB MIM# 614437
Green EFEMP2 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cutis laxa, autosomal recessive, type IB, MIM# 614437
Green EFEMP2 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437
Green EFEMP2 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437
Green EFEMP2 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.84	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cutis laxa, autosomal recessive, type IB MIM# 614437
Green EFEMP2 in Cutis Laxa Level 2: Dermatological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature GeneReviews Phenotypes Cutis laxa, autosomal recessive, type IB MIM#614437
Green EFEMP2 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 Cutis laxa, autosomal recessive, type IB, 614437 (3)
Red EFEMP2 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 Cutis laxa, autosomal recessive, type IB
Green EFEMP2 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437
Green EFEMP2 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IB, 614437 (3)
Red EFEMP2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cutis laxa, autosomal recessive, type IB