Hypogonadotropic hypogonadism idiopathic

Gene: TCF12

Amber List (moderate evidence)

TCF12 (transcription factor 12)
EnsemblGeneIds (GRCh38): ENSG00000140262
EnsemblGeneIds (GRCh37): ENSG00000140262
OMIM: 600480, Gene2Phenotype
TCF12 is in 10 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 23 Mar 2021, 4:32 p.m. | Last Modified: 23 Mar 2021, 4:32 p.m.
Panel Version: 1.18

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Well established gene-disease association with craniosynostosis with 38 unrelated families reported in the original gene discovery paper alone. New association with Kallman syndrome reported in PMID 32620954 (13 families, all but one mono-allelic variants), though note some individuals also had craniosynostosis so may represent a spectrum.
Sources: Literature
Created: 5 Oct 2020, 8:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis 3, MIM# 615314; Kallman syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Craniosynostosis 3, 615314
  • Kallman syndrome, MONDO:0018800
Tags
Q2_21_rating
OMIM
600480
Clinvar variants
Variants in TCF12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tcf12 has been classified as Amber List (Moderate Evidence).

23 Mar 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: TCF12.

23 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, 615314; Kallman syndrome to Craniosynostosis 3, 615314; Kallman syndrome, MONDO:0018800

16 Oct 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, MIM# 615314; Kallman syndrome to Craniosynostosis 3, 615314; Kallman syndrome

5 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TCF12 was added gene: TCF12 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCF12 were set to 23354436; 32620954 Phenotypes for gene: TCF12 were set to Craniosynostosis 3, MIM# 615314; Kallman syndrome Review for gene: TCF12 was set to GREEN