PanelApp (staging)
  1. Genes and Genomic Entities
  2. PPFIBP1

PPFIBP1

PPFIA binding protein 1
OMIM: 603141, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PPFIBP1 in Mendeliome


Version 1.2302

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024

Green PPFIBP1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.295

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024

Green PPFIBP1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024

    Green PPFIBP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024

    Green PPFIBP1 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities - MIM#620024