Familial non syndromic congenital heart disease

Gene: TLL1

Green List (high evidence)

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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype (limited). There is now enough evidence to support a gene-disease association. This gene should be rated Green.
Created: 4 Jan 2022, 4:27 p.m. | Last Modified: 4 Jan 2022, 4:27 p.m.
Panel Version: 1.69
Comment on publications: PMID:10331975 is a mouse model. Homozygous mutantsw were embryonic lethal with developmental defects in the heart (incomplete formation of the interventricular septum and an abnormal and novel positioning of the heart and aorta).

PMID:31570783 describes an individual with atrial septal defect with a de novo splice site variant in TLL1. However, the patient also has a variant in NODAL.
Created: 4 Jan 2022, 4:16 p.m. | Last Modified: 4 Jan 2022, 4:16 p.m.
Panel Version: 1.68

Dmitrijs Rots (RadboudUMC)

I don't know

Additional functional evidence for the variants described in previous three cases with ASD presented in 30538173. Additional case in 27418595. The rating of the gene should be re-evaluated based on current evidence.
Created: 23 Dec 2021, 11:43 a.m. | Last Modified: 23 Dec 2021, 11:43 a.m.
Panel Version: 1.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defects

Publications

Alice Gardham (Genomics England)

Possible association recognised on G2P. Missense variants identified in only three patients
Created: 30 Nov 2016, 12:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 6 613087

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Atrial septal defect 6, OMIM:613087
OMIM
606742
Clinvar variants
Variants in TLL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tll1 has been classified as Green List (High Evidence).

4 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tll1 has been classified as Amber List (Moderate Evidence).

4 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tll1 has been classified as Green List (High Evidence).

4 Jan 2022, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TLL1 were set to 18830233; 30538173; 27418595

4 Jan 2022, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TLL1 were changed from Atrial septal defect 6 613087 to Atrial septal defect 6, OMIM:613087

4 Jan 2022, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TLL1 were set to 18830233

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

30 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

30 Nov 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

TLL1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature,Radboud University Medical Center, Nijmegen

30 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

TLL1 was created by agardham