Genomics England
GMS Panels
Panels
Genes and Entities

TGFB3

transforming growth factor beta 3
OMIM: 190230
PanelMode of inheritanceDetails
7 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 5 615582
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LOEYS-DIETZ SYNDROME 5, LDS5
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LOEYS-DIETZ SYNDROME 615582
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Loeys-Dietz syndrome 5, OMIM:615582
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LOEYS-DIETZ SYNDROME
Green
in Pneumothorax - familial
R-numbers: R190
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary emphysema, MONDO:0004849, Loeys-Dietz syndrome 5, OMIM:615582
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 5, 615582, Arrhythmogenic right ventricular dysplasia 1, 107970