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 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pancreatic and cerebellar agenesis, 609069
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069, PANCREATIC AGENESIS
R-numbers: R143
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069, Permanent neonatal diabetes mellitus (PNDM), Permanent neonatal diabetes with cerebellar agenesis
R-numbers: R21
Signed-off version 1.92
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 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS