LTBP4

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

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green LTBP4 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	1 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	1 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 1.2302	1 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	1 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	0 reviews	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	0 reviews	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 1.313	1 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 1.1566	0 reviews	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 1.116	2 reviews	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 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170