Differences of Sex Development
Gene: NHLH2
NHLH2 (nescient helix-loop-helix 2)
EnsemblGeneIds (GRCh38): ENSG00000177551
EnsemblGeneIds (GRCh37): ENSG00000177551
OMIM: 162361, Gene2Phenotype
NHLH2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000177551
EnsemblGeneIds (GRCh37): ENSG00000177551
OMIM: 162361, Gene2Phenotype
NHLH2 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported homozygous for a missense variant in this gene. Two other individuals heterozygous for missense variants identified as part of this cohort; however, had alternative diagnoses.
Sources: Expert ReviewCreated: 20 Feb 2022, 6:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert Review
- Phenotypes
-
- Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755
- OMIM
- 162361
- Clinvar variants
- Variants in NHLH2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
20 Feb 2022, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nhlh2 has been classified as Red List (Low Evidence).
20 Feb 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NHLH2 was added gene: NHLH2 was added to Differences of Sex Development. Sources: Expert Review Mode of inheritance for gene: NHLH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLH2 were set to 35066646 Phenotypes for gene: NHLH2 were set to Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755 Review for gene: NHLH2 was set to RED