TPR

translocated promoter region, nuclear basket protein
OMIM: 189940, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red TPR in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 79, MIM# 620393

Red TPR in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 79, MIM# 620393

Red TPR in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 79, MIM# 620393

Red TPR in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 79, MIM# 620393

Red TPR in Incidentalome_PREGEN_DRAFT


Version 1.0

1 review Unknown
Sources
  • Expert Review Red
  • NSW Health Pathology