PanelApp
  1. Genes and Genomic Entities
  2. PTF1A

PTF1A

pancreas specific transcription factor, 1a
OMIM: 607194, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PTF1A in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pancreatic and cerebellar agenesis, MIM# 609069

Green PTF1A in Mendeliome


Version 1.2656

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pancreatic agenesis 2, MIM# 615935
  • Pancreatic and cerebellar agenesis, MIM# 609069

Amber PTF1A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.157

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Pancreatic and cerebellar agenesis, MIM#609069

    Green PTF1A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.174

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Pancreatic and cerebellar agenesis, MIM# 609069

    Green PTF1A in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.140

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM#609069

    Red PTF1A in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Pancreatic agenesis 2, MIM# 615935

    Green PTF1A in Fetal anomalies


    Version 1.370

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Pancreatic and cerebellar agenesis, MIM# 609069

    Green PTF1A in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.121

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Pancreatic and cerebellar agenesis, MIM# 609069
    • Pancreatic agenesis 2, MIM# 615935
    Tags
    • treatable
    • gastrointestinal