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Fetal anomalies

Gene: TLL1

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

7 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

Atrial septal defect, nil else reported, no antenatal case reports. Has gone green, Downgrade
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital heart disease; Atrial septal defect 6, OMIM:613087

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

Re-reviewed by fetal anomaly panel review group in May 2024 - suggest downgrade to Amber
Associated with atrial septal defect and no other association reported. No antenatal case reports. Isolated cardiac defects not currently eligible for R21.
Created: 31 May 2024, 3:34 p.m. | Last Modified: 31 May 2024, 3:34 p.m.
Panel Version: 4.1
Created: 31 May 2024, 3:34 p.m.
Last Modified: 31 May 2024, 3:34 p.m.
Panel version: 4.1

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: TLL1 was re-reviewed by the GMS specialist team and it was decided that this gene should be demoted from Green to Amber, in line with the review by Stephanie Allen (Birmingham Women's Hospital).
Created: 5 Jun 2024, 3:19 p.m. | Last Modified: 5 Jun 2024, 3:19 p.m.
Panel Version: 4.3
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.10
Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.10

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
Created: 4 Jan 2022, 4:16 p.m.
Last Modified: 4 Jan 2022, 4:16 p.m.
Copied from panel: Familial non syndromic congenital heart disease v1.70

Dmitrijs Rots (Children's Clinical University Hospital)

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

Created: 23 Dec 2021, 11:43 a.m.
Last Modified: 23 Dec 2021, 11:43 a.m.
Copied from panel: Familial non syndromic congenital heart disease v1.70

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

Created: 30 Nov 2016, 12:53 p.m.

Copied from panel: Familial non syndromic congenital heart disease v1.70

Details

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

History Filter Activity

26 Sep 2024, Gel status: 2

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_demote_amber was removed from gene: TLL1. Tag Q2_24_NHS_review was removed from gene: TLL1.

26 Sep 2024, Gel status: 2

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Amber was added to TLL1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

5 Jun 2024, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_24_demote_amber tag was added to gene: TLL1. Tag Q2_24_NHS_review tag was added to gene: TLL1.

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_rating was removed from gene: TLL1.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to TLL1. Source NHS GMS was added to TLL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Jan 2022, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q1_22_rating tag was added to gene: TLL1.

4 Jan 2022, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: TLL1 was added gene: TLL1 was added to Fetal anomalies. Sources: Expert Review Amber,Radboud University Medical Center, Nijmegen,Literature Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TLL1 were set to 18830233; 30538173; 27418595; 10331975; 31570783 Phenotypes for gene: TLL1 were set to Atrial septal defect 6, OMIM:613087 Penetrance for gene: TLL1 were set to Complete