EFEMP2

EGF containing fibulin extracellular matrix protein 2
OMIM: 604633, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber EFEMP2 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Red EFEMP2 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Pulmonary Disease
Red EFEMP2 in Pneumothorax - familial Level 3: Structural lung disorders Level 2: Respiratory disorders Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Cutis laxa
Amber EFEMP2 in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber
Green EFEMP2 in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green South West GLH London South GLH South West GLH London South GLH Phenotypes Cutis laxa, autosomal recessive, type IB, 614437 aortic aneurysm
Green EFEMP2 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.127	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH London South GLH Expert Review Green Expert list Phenotypes Cutis laxa, autosomal recessive, type IB, 614437 aortic aneurysm
Green EFEMP2 in Ehlers Danlos syndrome with a likely monogenic cause Level 3: Connective tissues disorders Level 2: Rheumatological disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IB, OMIM:614437
Green EFEMP2 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OMIM:614437