Hypogonadotropic hypogonadism (GMS)

Gene: NDNF

Green List (high evidence)

NDNF (neuron derived neurotrophic factor)
EnsemblGeneIds (GRCh38): ENSG00000173376
EnsemblGeneIds (GRCh37): ENSG00000173376
OMIM: 616506, Gene2Phenotype
NDNF is in 2 panels

4 reviews

Zornitza Stark (Australian Genomics)

I don't know

PMID: 31883645
3 PTC (1 NMD, 2 PTV) and 1 missense
- missense is common in gnomAD and appears not to have functional impact
- 2/3 PTCs have non-segregation ?? incomplete penetrance postulated
- the remaining PTC has insufficient segregation demonstrated.
Created: 1 Nov 2023, 3:01 a.m. | Last Modified: 1 Nov 2023, 3:01 a.m.
Panel Version: 3.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypogonadotropic hypogonadism 25 with anosmia MIM#618841

Publications

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:06 p.m. | Last Modified: 20 Oct 2020, 3:06 p.m.
Panel Version: 1.10

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 2:06 p.m. | Last Modified: 3 Mar 2022, 2:06 p.m.
Panel Version: 1.50
Comment on list classification: Gene added by expert reviewer (Simon Thomas (Wessex)) with suggested Green rating.

The gene is associated with a relevent disease in OMIM and is probably associated with a relevent disease in Gene2Phentoype. There are 3 unrelated cases. Therefore, there is enough evidence to support this gene-disease phenotype.
Created: 5 May 2020, 3:36 p.m. | Last Modified: 5 May 2020, 3:36 p.m.
Panel Version: 1.8

Simon Thomas (Wessex)

Green List (high evidence)

Messina et al (Am J Hum Genet Jan 2020) screened NDNF (Neuron-Derived Neurotrophic Factor) because, in common with several IHH genes, it contains a fibronectin-3 (FN3) domain.
Three heterozygous protein-truncating variants and one heterozygous missense variant were identified in a cohort of 240 unrelated IHH patients. The authors also provided supporting evidence from animal models.
Sources: Literature
Created: 10 Jan 2020, 12:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital hypogonadotropic hypogonadism (CHH)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Congenital hypogonadotropic hypogonadism (CHH)
  • Hypogonadotropic hypogonadism 25 with anosmia, 618841
OMIM
616506
Clinvar variants
Variants in NDNF
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: NDNF.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to NDNF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: NDNF.

5 May 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ndnf has been classified as Green List (High Evidence).

5 May 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NDNF were changed from Congenital hypogonadotropic hypogonadism (CHH) to Congenital hypogonadotropic hypogonadism (CHH); Hypogonadotropic hypogonadism 25 with anosmia, 618841

5 May 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: NDNF were set to PMID: 31883645

10 Jan 2020, Gel status: 0

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

Simon Thomas (Wessex)

gene: NDNF was added gene: NDNF was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NDNF were set to PMID: 31883645 Phenotypes for gene: NDNF were set to Congenital hypogonadotropic hypogonadism (CHH) Penetrance for gene: NDNF were set to unknown Review for gene: NDNF was set to GREEN gene: NDNF was marked as current diagnostic