• Haploinsufficiency score: 3
• Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
• Haploinsufficiency Phenotype: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A

Evidence for haploinsufficiency phenotype

PubMed ID	Description
11062471	Bech-Hansen et al. (2000): Describes 14 different mutations identified amongst 22 families with complete congenital stationary night blindness, including one nonsense mutation, W350X.
11062472	Pusch et al. (2000): Describes 16 additional mutations in NYX, including intragenic deletions of exons 1-2 and exon 3 and 3' UTR, and a nonsense mutation, C35X.

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

• Triplosensitivity score: 0
• Strength of Evidence (disclaimer): No evidence available

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.