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Hypogonadotropic hypogonadism (GMS) v2.5 TCF12 Catherine Snow Tag Q2_21_rating was removed from gene: TCF12.
Hypogonadotropic hypogonadism (GMS) v2.5 TCF12 Catherine Snow commented on gene: TCF12
Hypogonadotropic hypogonadism (GMS) v1.18 TCF12 Ivone Leong Classified gene: TCF12 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v1.18 TCF12 Ivone Leong Added comment: 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.
Hypogonadotropic hypogonadism (GMS) v1.18 TCF12 Ivone Leong Gene: tcf12 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v1.17 TCF12 Ivone Leong Tag Q2_21_rating tag was added to gene: TCF12.
Hypogonadotropic hypogonadism (GMS) v1.17 TCF12 Ivone Leong Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, 615314; Kallman syndrome to Craniosynostosis 3, 615314; Kallman syndrome, MONDO:0018800
Hypogonadotropic hypogonadism (GMS) v1.9 TCF12 Ivone Leong Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, MIM# 615314; Kallman syndrome to Craniosynostosis 3, 615314; Kallman syndrome
Hypogonadotropic hypogonadism (GMS) v1.8 TCF12 Zornitza Stark 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
Added comment: 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