TGFB1

transforming growth factor beta 1
OMIM: 190180, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber TGFB1 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.121 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213
Green TGFB1 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TGFB1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213 Camurati-Engelmann disease, MIM# 131300
Green TGFB1 in Osteopetrosis Level 2: Skeletal disorders Version 0.34	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber TGFB1 in Disorders of immune dysregulation Level 2: Immunological disorders Version 0.186 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213
Green TGFB1 in Immune_markers_WTS_UMCCR Level 2: Cancer Version 0.75	review	Unknown	Sources Expert list Expert Review Green Tags umccr
Amber TGFB1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213
Green TGFB1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Camurati-Engelmann disease 131300 Camurati-Engelmann disease 131300
Red TGFB1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Camurati-Engelmann disease
Red TGFB1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213
Red TGFB1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Camurati-Engelmann disease