Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Autism

Gene: POT1

Red List (low evidence)

POT1 (protection of telomeres 1)
EnsemblGeneIds (GRCh38): ENSG00000128513
EnsemblGeneIds (GRCh37): ENSG00000128513
OMIM: 606478, Gene2Phenotype
POT1 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/POT1
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Red
  • SFARI
OMIM
606478
Clinvar variants
Variants in POT1
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to POT1.

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: POT1 was added gene: POT1 was added to Autism. Sources: SFARI Mode of inheritance for gene: POT1 was set to