PTF1A

pancreas specific transcription factor, 1a
OMIM: 607194
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pancreatic and cerebellar agenesis, 609069
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069, PANCREATIC AGENESIS
R-numbers: R143
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pancreatic and cerebellar agenesis, OMIM:609069, Permanent neonatal diabetes mellitus, MONDO:0100164, Pancreatic agenesis 2, OMIM:615935
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS, PANCREATIC AGENESIS
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS