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  3. CCDC141
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Hypogonadotropic hypogonadism

Gene: CCDC141

Amber List (moderate evidence)
CCDC141 (coiled-coil domain containing 141)
EnsemblGeneIds (GRCh38): ENSG00000163492
EnsemblGeneIds (GRCh37): ENSG00000163492
OMIM: 616031, Gene2Phenotype
CCDC141 is in 2 panels

3 reviews

Ivone Leong (Genomics England Curator)

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.
Created: 17 Jan 2019, 3 p.m.

Panel version: 1.22

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

I don't know

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.

Publications

Created: 16 Jan 2019, 11:53 a.m.

Panel version: 1.18

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Only one publication, but describes 9 affected individuals from four families and includes functional evidence.
Sources: Literature
Created: 2 Jan 2019, 1:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Normosmic IHH

Publications

Created: 2 Jan 2019, 1:26 p.m.

Panel version: 1.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Normosmic IHH (no OMIM)
OMIM
616031
Clinvar variants
Variants in CCDC141
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ccdc141 has been classified as Amber List (Moderate Evidence).

16 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CCDC141 were changed from Normosmic IHH to Normosmic IHH (no OMIM)

16 Jan 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CCDC141 were set to PMID: 28324054

2 Jan 2019, Gel status: 1

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

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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