PHF5A

PHD finger protein 5A
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PHF5A in Mendeliome


Version 1.2302

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), PHF5A-related

Green PHF5A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), PHF5A-related

Green PHF5A in Fetal anomalies


Version 1.313

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), PHF5A-related