DDG2P
Gene: TONSL

TONSL (tonsoku like, DNA repair protein)
EnsemblGeneIds (GRCh38): ENSG00000160949
EnsemblGeneIds (GRCh37): ENSG00000160949
OMIM: 604546, Gene2Phenotype
TONSL is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TONSL-related sponastrime dysplasia are strong, biallelic_autosomal and loss of function (PMIDs: 30773277, 30773278). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02564.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TONSL-related sponastrime dysplasia; MONDO:0010068; OMIM:271510.0

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

TONSL-related sponastrime dysplasia
MONDO:0010068
OMIM:271510.0

OMIM

604546

Clinvar variants

Variants in TONSL

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TONSL was added gene: TONSL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TONSL were set to 30773277; 30773278 Phenotypes for gene: TONSL were set to TONSL-related sponastrime dysplasia; MONDO:0010068; OMIM:271510.0

DDG2P Gene: TONSL