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Differences of Sex Development v0.239 NHLH2 Zornitza Stark Marked gene: NHLH2 as ready
Differences of Sex Development v0.239 NHLH2 Zornitza Stark Gene: nhlh2 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.239 NHLH2 Zornitza Stark 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
Added comment: 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 Review