TGFB1:Ensemblv115

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber TGFB1 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

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

Green TGFB1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

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

Green TGFB1 in Osteopetrosis


Level 2: Skeletal disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Camurati-Engelmann disease MONDO:0007542

Amber TGFB1 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.0

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

Green TGFB1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • NHS GMS
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Camurati-Engelmann disease 131300
  • Camurati-Engelmann disease 131300

Red TGFB1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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