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  2. Pituitary hormone deficiency
  3. TBL1X
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Pituitary hormone deficiency

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 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Central cause.
Created: 21 Dec 2020, 6:58 a.m. | Last Modified: 21 Dec 2020, 6:58 a.m.
Panel Version: 0.8
Created: 21 Dec 2020, 6:58 a.m.
Last Modified: 21 Dec 2020, 6:58 a.m.
Panel version: 0.8

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27603907 - mostly males but also a female diagnosed with central hypothyroidism. 6 families reported (5/6 missense, 1/6 splice). Supported by functional studies ->LOF

All mutations were located in the highly conserved WD40-repeat domains.
Sources: Literature
Created: 21 Dec 2020, 5:02 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Hypothyroidism, congenital, nongoitrous, 8 MIM#301033

Publications

Created: 21 Dec 2020, 5:02 a.m.

Panel version: 0.8

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
OMIM
300196
Clinvar variants
Variants in TBL1X
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbl1x has been classified as Green List (High Evidence).

21 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbl1x has been classified as Green List (High Evidence).

21 Dec 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: TBL1X was added gene: TBL1X was added to Pituitary hormone deficiency. Sources: Literature 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) Publications for gene: TBL1X were set to PMID: 27603907 Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033 Review for gene: TBL1X was set to GREEN