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| Differences of Sex Development v0.238 | TCF12 | Zornitza Stark Phenotypes for gene: TCF12 were changed from Kallmann syndrome to Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718; Kallmann syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.237 | TCF12 | Zornitza Stark edited their review of gene: TCF12: Changed phenotypes: Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718, Kallmann syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.169 | TCF12 | Zornitza Stark Marked gene: TCF12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.169 | TCF12 | Zornitza Stark Gene: tcf12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.169 | TCF12 | Zornitza Stark Classified gene: TCF12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.169 | TCF12 | Zornitza Stark Gene: tcf12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.168 | TCF12 |
Zornitza Stark gene: TCF12 was added gene: TCF12 was added to Disorders of Sex Differentiation. Sources: Literature Mode of inheritance for gene: TCF12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TCF12 were set to 32620954 Phenotypes for gene: TCF12 were set to Kallmann syndrome Review for gene: TCF12 was set to GREEN Added comment: Note monoallelic variants in this gene are a well-established cause of craniosynostosis. ------------------------------------------------------------------------------------------------------------------------ - PMID: 32620954 (2020) - 13 unrelated kindreds (11 de novo, 1 AD and 1 AR) comprising 14 affected individuals with an anosmic form of isolated GnRH deficiency (IGD) (Kallman syndrome) due to different LoF variants in TCF12. Clinical manifestation included anosmia and pubertal failure (with reproductive phenotypes such as micropenis, bilateral cryptorchidism, hypospadias). Two unrelated individuals within the cohort additionally exhibited craniosynostosis, and a further two pedigrees had a family history of craniosynostosis (that did not affect the index case). Multiplex cases typically presented incomplete penetrance. Loss of tcf12 in a mutant zebrafish model perturbed GnRH neuronal patterning, with concomitant expression attenuation of tcf3a/b and stub1 (latter mutated in other syndromic forms of IGD). Furthermore, restored STUB1 expression rescued loss of tcf12 in vivo. Green for mono-allelic variants, caution with bi-allelic variants. Sources: Literature |
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