1. Panels
  2. Cerebellar and Pontocerebellar Hypoplasia
  3. PTF1A
STRs in panel
Prev Next
Regions in panel
Prev Next

Cerebellar and Pontocerebellar Hypoplasia

Gene: PTF1A

Green List (high 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)

Green List (high evidence)

At least three unrelated families reported.
Sources: Expert list
Created: 27 Apr 2020, 12:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pancreatic and cerebellar agenesis, MIM# 609069

Publications

Created: 27 Apr 2020, 12:21 p.m.

Panel version: 0.107

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pancreatic and cerebellar agenesis, MIM# 609069
OMIM
607194
Clinvar variants
Variants in PTF1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptf1a has been classified as Green List (High Evidence).

27 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptf1a has been classified as Green List (High Evidence).

27 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTF1A was added gene: PTF1A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTF1A were set to 21749365; 10507728; 15543146; 19650412 Phenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, MIM# 609069 Review for gene: PTF1A was set to GREEN