LTBP3:Ensemblv90

latent transforming growth factor beta binding protein 3
OMIM: 602090, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green LTBP3 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.244	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Geleophysic dysplasia 3 - MIM#617809
Green LTBP3 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.101	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Thoracic aortic aneurysms and dissections
Green LTBP3 in Mendeliome Version 1.3802	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dental anomalies and short stature, MIM# 601216 Geleophysic dysplasia 3, MIM# 617809 Thoracic aneurysm
Green LTBP3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.365	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Dental anomalies and short stature 610216 Geleophysic dysplasia 3 617809 Geleophysic dysplasia 3 617809
Green LTBP3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tooth agenesis, selective, 6, 613097 (3)
Green LTBP3 in Amelogenesis imperfecta Level 2: Skeletal disorders Version 1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dental anomalies and short stature, 601216 Amelogenesis Imperfecta syndromic AI with brachyolmia
Green LTBP3 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.80 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Geleophysic dysplasia 3 617809 Dental anomalies and short stature 610216
Green LTBP3 in Fetal anomalies Version 1.482	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dental anomalies and short stature, MIM# 601216 Geleophysic dysplasia 3, MIM# 617809 Thoracic aneurysm
Green LTBP3 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dental anomalies and short stature, MIM #601216
Green LTBP3 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes Geleophysic dysplasia 3 - MIM#617809
Green LTBP3 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Other Expert Review Green Phenotypes Thoracic aortic aneurysms and dissections
Green LTBP3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services NHS GMS Literature Expert Review Green Expert Review Green Phenotypes Dental anomalies and short stature 610216 Geleophysic dysplasia 3 617809 Geleophysic dysplasia 3 617809
Green LTBP3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Tooth agenesis, selective, 6, 613097 (3)
Green LTBP3 in Amelogenesis imperfecta Level 2: Skeletal disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Dental anomalies and short stature, 601216 Amelogenesis Imperfecta syndromic AI with brachyolmia
Green LTBP3 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Expert list Phenotypes Geleophysic dysplasia 3 617809 Dental anomalies and short stature 610216
Green LTBP3 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Dental anomalies and short stature, MIM #601216