Familial non syndromic congenital heart disease

Gene: TLL1

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

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

• PMID: 30538173
• 27418595

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

• 18830233