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Differences of Sex Development

Gene: NDNF

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

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 31883645
3 PTC (1 NMD, 2 PTV) and 1 missense
- missense is super common in gnomAD and functionally shown to do nothing
- 2/3 PTCs have non seg passed off as incomplete penetrance
- the remaining PTC was a parent/child combo with an unaffected sibling who was wildtype, insufficient evidence for seg.
- animal models were good, as were functional studies on the PTCs
Created: 18 Sep 2022, 10:35 p.m. | Last Modified: 18 Sep 2022, 10:35 p.m.
Panel Version: 0.265

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hypogonadotropic hypogonadism 25 with anosmia MIM#618841

Publications

Created: 18 Sep 2022, 10:35 p.m.
Last Modified: 18 Sep 2022, 10:35 p.m.
Panel version: 0.265

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three heterozygous protein-truncating variants and one heterozygous missense variant identified in a cohort of 240 unrelated IHH patients. The authors also provided supporting evidence from animal models.
Sources: Literature
Created: 7 May 2020, 10:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital hypogonadotropic hypogonadism (CHH)

Publications

Created: 7 May 2020, 10:07 a.m.

Panel version: 0.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 25 with anosmia MIM#618841
OMIM
616506
Clinvar variants
Variants in NDNF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2022, Gel status: 2

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: NDNF were changed from Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 to Hypogonadotropic hypogonadism 25 with anosmia MIM#618841

18 Sep 2022, Gel status: 2

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

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

18 Sep 2022, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

7 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDNF was added gene: NDNF was added to Disorders of Sex Differentiation. Sources: Literature Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NDNF were set to 31883645 Phenotypes for gene: NDNF were set to Congenital hypogonadotropic hypogonadism (CHH) Review for gene: NDNF was set to GREEN