Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: NPAS2

Red List (low evidence)

NPAS2 (neuronal PAS domain protein 2)
EnsemblGeneIds (GRCh38): ENSG00000170485
EnsemblGeneIds (GRCh37): ENSG00000170485
OMIM: 603347, Gene2Phenotype
NPAS2 is in 1 panel

1 review

Alison Compton (Murdoch Children's Research Institute)

Red List (low evidence)

Three brothers with NOA from consanguineous Turkish family, homozygous NM_002518.3(NPAS2) c.1363C>G; p.(Pro455Ala) variant identified. Found to be heterozygous in mother, and fertile brother and sister. Not present in 1000 Genomes, EVS or gnomAD. Predicted to be “benign” by Polyphen2, and "neutral" by both SIFT and Mutation taster. Not predicted to be within a functional domain. Gene not listed as a disease-gene in OMIM, no other 'pathogenic' or 'likely pathogenic' variants listed in ClinVar. Publication did not include any functional work as support.
Created: 29 Apr 2021, 12:53 a.m. | Last Modified: 29 Apr 2021, 12:54 a.m.
Panel Version: 0.7415

Mode of inheritance
Unknown

Phenotypes
Non-obstructive azoospermia

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Non-obstructive azoospermia
OMIM
603347
Clinvar variants
Variants in NPAS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: npas2 has been classified as Red List (Low Evidence).

29 Apr 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NPAS2 were changed from to Non-obstructive azoospermia

29 Apr 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NPAS2 were set to

29 Apr 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPAS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: npas2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPAS2 was added gene: NPAS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NPAS2 was set to Unknown