Hypogonadotropic hypogonadismGene: CCDC141
Comment on list classification: Promoted from red to amber as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) and Anna de Burca (Genomics England Curator).
Created: 17 Jan 2019, 3 p.m.
Inactivating CCDC141 variants identifed in four separate families with IHH. Affected individuals had normal olfactory function and anatomically normal olfactory bulbs (PMID: 28324054). In a rodent nasal explant model, knockdown of CCDC141 resulted in decreased embryonic GnRH cell migration without interrupting olfactory axon outgrowth (PMID: 27014940).
Created: 16 Jan 2019, 11:53 a.m.
Only one publication, but describes 9 affected individuals from four families and includes functional evidence.
Created: 2 Jan 2019, 1:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CCDC141 were changed from Normosmic IHH to Normosmic IHH (no OMIM)
Publications for gene: CCDC141 were set to PMID: 28324054
gene: CCDC141 was added gene: CCDC141 was added to Hypogonadotropic hypogonadism. Sources: Literature Mode of inheritance for gene: CCDC141 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCDC141 were set to PMID: 28324054 Phenotypes for gene: CCDC141 were set to Normosmic IHH Review for gene: CCDC141 was set to AMBER