Genomics England
GMS Panels
Panels
Genes and Entities

PTF1A

pancreas specific transcription factor, 1a
OMIM: 607194
PanelMode of inheritanceDetails
5 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.40
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pancreatic and cerebellar agenesis, 609069
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069, PANCREATIC AGENESIS
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS, PANCREATIC AGENESIS
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
Green
in Neonatal diabetes
R-numbers: R143
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pancreatic and cerebellar agenesis, OMIM:609069, Permanent neonatal diabetes mellitus, MONDO:0100164, Pancreatic agenesis 2, OMIM:615935