EFEMP1

EGF containing fibulin extracellular matrix protein 1
OMIM: 601548, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red EFEMP1 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green EFEMP1 in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type ID, OMIM:620780 cutis laxa, MONDO:0016175
Amber EFEMP1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Cutis laxa, autosomal recessive, type ID, OMIM:620780
Green EFEMP1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Eligibility statement prior genetic testing Expert Review Green Phenotypes Doyne honeycomb degeneration of retina, OMIM:126600
Amber EFEMP1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Glaucoma 1, open angle, H, OMIM:611276 Tags Q3_25_promote_green