BRF2

BRF2, RNA polymerase III transcription initiation factor subunit
OMIM: 607013, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green BRF2 in Mendeliome


Version 1.3741

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, BRF2-related

Green BRF2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.374

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, BRF2-related

Green BRF2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.486

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, BRF2-related

Green BRF2 in Fetal anomalies


Version 1.479

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, BRF2-related