BRPF1

bromodomain and PHD finger containing 1
OMIM: 602410, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green BRPF1 in Blepharophimosis


Level 2: Ophthalmological disorders
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333
  • MONDO:0015022

Green BRPF1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333
  • MONDO:0015022

Green BRPF1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333
  • MONDO:0015022

Green BRPF1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333
  • MONDO:0015022

Green BRPF1 in Speech apraxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333