LTBP4

latent transforming growth factor beta binding protein 4
OMIM: 604710, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green LTBP4 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type IC (MIM# 613177)
Green LTBP4 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IC, MIM# 613177 Urban-Rifkin-Davis Syndrome – cutis laxa Infant/Childhood emphysema
Green LTBP4 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IC, MIM# 613177
Green LTBP4 in Cutis Laxa Level 2: Dermatological disorders Version 1.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature GeneReviews Phenotypes Cutis laxa, autosomal recessive, type IC MIM#613177
Green LTBP4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IC, 613177 (3)
Green LTBP4 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IC
Green LTBP4 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cutis laxa, autosomal recessive, type IC, MIM# 613177
Green LTBP4 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IC, 613177 (3)
Red LTBP4 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Cutis laxa, autosomal recessive, type IC (MIM# 613177)
Red LTBP4 in Pneumothorax Level 3: Structural lung disorders Level 2: Respiratory disorders Version 0.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170