Liver Failure_Paediatric
Gene: PTF1A

PTF1A (pancreas specific transcription factor, 1a)
EnsemblGeneIds (GRCh38): ENSG00000168267
EnsemblGeneIds (GRCh37): ENSG00000168267
OMIM: 607194, Gene2Phenotype
PTF1A is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

14 affected individuals from 10 families with isolated pancreatic hypoplasia or agenesis reported. Patients were typically diagnosed with insulin-dependent diabetes mellitus at birth or in infancy, although 2 individuals were diagnosed at ages 8 and 10 years, respectively, and 1 at 22 years of age. All patients also had pancreatic exocrine insufficiency, with low or undetectable stool elastase in all who were tested. Pancreatic hypoplasia or agenesis was documented by ultrasound, CT, or MRI in the 9 patients studied. No neurologic features were reported, except for 1 patient who exhibited mild developmental delay, and no other abnormalities were reported, except for 1 patient who had fatal cholestatic liver failure
Sources: Expert list
Created: 1 Nov 2020, 10:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pancreatic agenesis 2, MIM# 615935

Publications

24212882

Created: 1 Nov 2020, 10:23 a.m.

Panel version: 0.51

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list

Phenotypes

Pancreatic agenesis 2, MIM# 615935

OMIM

607194

Clinvar variants

Variants in PTF1A

Penetrance

None

Publications

24212882

Panels with this gene

History Filter Activity

1 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptf1a has been classified as Red List (Low Evidence).

1 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes