1. Panels
  2. Newborns main panel
  3. TBL1X
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: TBL1X

Green List (high evidence)
TBL1X (transducin beta like 1 X-linked)
EnsemblGeneIds (GRCh38): ENSG00000101849
EnsemblGeneIds (GRCh37): ENSG00000101849
OMIM: 300196, Gene2Phenotype
TBL1X is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID:27603907 (6 families) PMID: 36860195 - 8 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
MOI reviewed by clinical team. Katrina Stone comment: X-inactivation not assessed in the relevant tissues so can't be sure this isn't the cause. Mafalda Gomes comment: Some females reported. X-inactivation analysis showed no skewing in the 3 female patients or in 3 female carriers with normal FT4 levels.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.
Panel Version: 0.40

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Hypothyroidism, congenital, nongoitrous, 8

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 8
OMIM
300196
Clinvar variants
Variants in TBL1X
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypothyroidism, congenital, nongoitrous, 8 for gene: TBL1X

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TBL1X. Added phenotypes Hypothyroidism, congenital, nongoitrous, 8 for gene: TBL1X Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to TBL1X. Added phenotypes Hypothyroidism, congenital, nongoitrous, 8 for gene: TBL1X Rating Changed from No List (delete) to Amber List (moderate evidence)

10 Mar 2023, Gel status: 0

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: TBL1X was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypothyroidism, congenital, nongoitrous, 8 for gene: TBL1X

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: TBL1X was added gene: TBL1X was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)