Ataxia and cerebellar anomalies - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pancreatic and cerebellar agenesis, 609069
- OMIM
- 607194
- Clinvar variants
- Variants in PTF1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Cerebellar hypoplasia
- Neonatal diabetes
- Ataxia and cerebellar anomalies - childhood onset
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Familial diabetes
- Multi-organ autoimmune diabetes
- DDG2P
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PTF1A was added gene: PTF1A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTF1A were set to 15543146 Phenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, 609069