1. Panels
  2. DDG2P
  3. TLL1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: TLL1

Red List (low evidence)
TLL1 (tolloid like 1)
EnsemblGeneIds (GRCh38): ENSG00000038295
EnsemblGeneIds (GRCh37): ENSG00000038295
OMIM: 606742, Gene2Phenotype
TLL1 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TLL1-related atrial septal defect are limited, monoallelic_autosomal and undetermined (PMID:18830233). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00416.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease ATRIAL SEPTAL DEFECT TYPE 6, OMIM:613087 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMID:18830233).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM:613087.0; TLL1-related atrial septal defect; ATRIAL SEPTAL DEFECT TYPE 6, OMIM:613087; MONDO:0013123

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: uncertain
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • ATRIAL SEPTAL DEFECT TYPE 6 613087
OMIM
606742
Clinvar variants
Variants in TLL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: TLL1 was changed from Other to None

4 Oct 2023, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene TLL1 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: TLL1 was added gene: TLL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TLL1 were set to 18830233 Phenotypes for gene: TLL1 were set to ATRIAL SEPTAL DEFECT TYPE 6 613087 Mode of pathogenicity for gene: TLL1 was set to Other - please provide details in the comments