Cerebellar hypoplasia
Gene: PTF1A
PTF1A (pancreas specific transcription factor, 1a)
EnsemblGeneIds (GRCh38): ENSG00000168267
EnsemblGeneIds (GRCh37): ENSG00000168267
OMIM: 607194, Gene2Phenotype
PTF1A is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000168267
EnsemblGeneIds (GRCh37): ENSG00000168267
OMIM: 607194, Gene2Phenotype
PTF1A is in 12 panels
1 review
Alice Gardham (Genomics England)
Usually cerebellar agenesis but can be hypoplasiaCreated: 14 Nov 2016, 12:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pancreatic and cerebellar agenesis, 609069
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Pancreatic and cerebellar agenesis, 609069
- OMIM
- 607194
- Clinvar variants
- Variants in PTF1A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Monogenic diabetes
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Multi-organ autoimmune diabetes
- Cerebellar hypoplasia
- Fetal anomalies
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
22 Feb 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
14 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
14 Nov 2016, Gel status: 4
Added New Source
Alice Gardham (Genomics England)PTF1A was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
14 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)PTF1A was created by agardham