PanelApp (staging)
  1. Genes and Genomic Entities
  2. TGFB1

TGFB1

transforming growth factor beta 1
OMIM: 190180, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Amber TGFB1 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.122

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 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 0.149

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TGFB1 in Mendeliome


    Version 1.2302

    		1 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

    		1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber TGFB1 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.5

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213

    Amber TGFB1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 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 0.302

    		1 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

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Camurati-Engelmann disease

    Red TGFB1 in Fetal anomalies


    Version 1.313

    		1 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 1.116

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Camurati-Engelmann disease