Hypogonadotropic hypogonadism (GMS)
Gene: TCF12After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Insufficient evidence to promote to green."Created: 31 Jan 2023, 5:03 p.m. | Last Modified: 31 Jan 2023, 5:03 p.m.
Panel Version: 2.5
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
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: LiteratureCreated: 5 Oct 2020, 8:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis 3, MIM# 615314; Kallman syndrome
Publications
Tag Q2_21_rating was removed from gene: TCF12.
Gene: tcf12 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: TCF12.
Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, 615314; Kallman syndrome to Craniosynostosis 3, 615314; Kallman syndrome, MONDO:0018800
Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, MIM# 615314; Kallman syndrome to Craniosynostosis 3, 615314; Kallman syndrome
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