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Fetal anomalies

Gene: TONSL

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

Green on skeletal dysplasia panel. Associated with autosomal recessive spondyloepimetaphyseal dysplasia featuring short stature and short limbs, platyspondyly, depressed nasal bridge with midface hypoplasia and striated metaphyses. Knockout and knock-in mouse models show embryonic lethality and fetal growth restriction; knockout in zebrafish shows reduced length, spinal abnormalities, reduced numbers of neutrophils, and early lethality (PMID: 30773277, 30773278). Well-established disorder but all cases ascertained postnatally. Evidence for prenatal presentation in some cases. In case in PMID: 32959051, short limbs and intrauterine growth retardation detected in 3rd trimester. In PMID: 30773278, proband 6 prenatal ultrasound showed poor growth and at birth weight was -3.4SD, length -5.6SD, HC -2.1SD; proband 8 low birth weight and short left femur; proband 9 short limbs and trunk at birth; proband 11 IUGR; proband 12 birth weight -2SD. Normal birth weight and length reported for affected siblings in family 1, proband 3, proband 7.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia, sponastrime type, MIM#271510

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510
OMIM
604546
Clinvar variants
Variants in TONSL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: TONSL. Tag Q1_25_ promote_green was removed from gene: TONSL.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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

21 Feb 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: TONSL. Tag Q1_25_ promote_green tag was added to gene: TONSL.

20 Feb 2025, Gel status: 2

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 Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TONSL were set to 32959051; 30773278; 30773277 Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510