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Genetic Epilepsy

Gene: PTF1A

Amber List (moderate evidence)

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)

I don't know

Variants in this gene seem to cause either an isolated pancreatic phenotype or a combined pancreatic/neurological phenotype, and seizures are a feature of the latter, though low numbers of affected individuals reported.
Created: 25 Jan 2020, 1:59 a.m. | Last Modified: 25 Jan 2020, 1:59 a.m.
Panel Version: 0.436

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pancreatic and cerebellar agenesis, MIM#609069

Publications

Details

Mode of Inheritance
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
OMIM
607194
Clinvar variants
Variants in PTF1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTF1A were changed from Pancreatic and cerebellar agenesis, MIM#609069 to Pancreatic and cerebellar agenesis, MIM#609069

25 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptf1a has been classified as Amber List (Moderate Evidence).

25 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTF1A were changed from to Pancreatic and cerebellar agenesis, MIM#609069

25 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTF1A were set to

25 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PTF1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

25 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptf1a has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTF1A was added gene: PTF1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTF1A was set to Unknown