NYX |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NYX (HGNC:8082) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
- HGNC Name
- nyctalopin
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CSNB1, CSNB4
- Alias symbols
- CLRP, CSNB1A
- %HI
- 58.33(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.13(Read more about gnomAD pLI score)
- LOEUF
- 1.13(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.4
- Genomic Coordinates
-
GRCh37/hg19: chrX:41306596-41334905 NCBI Ensembl UCSC GRCh38/hg38: chrX:41447343-41475652 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001378477.3 ENST00000378220.3 (Read more about MANE Select)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- X-linked complete congenital stationary night blindness type 1A Monarch
-
PUBMED:
11062472
Pusch CM et al (2000) did genetic mapping in families with X-linked complete congenital stationary night blindness (XLCSNB) and found the subtype of complete CSNB (CSNB1 or cCSNB) locus has been mapped to Xp11.4, and leading to identification of a new gene mutated in CSNB1 patients, NYX. It is partially deleted in 3 families: exon 1 and 2 (maximum size of deletion is 10kb) deleted in family 2676 and had 21 segregation in this family; exon 3 and 3’-UTR deletion which predicted causing truncated protein in family 7903; and a 326 bp deletion which predicted causing truncated protein in family CSNBX. Mutation analysis in a further 21 families detected another 13 different mutations, including a nonsense mutation C35X in family 5884.
-
PUBMED:
11062471
Bech-Hansen NT et al (2000) studied 22 families with ‘complete’ X-linked CSNB (CSNB1, OMIM 310500) and found 14 different mutations, including one founder mutation, a 24 bp deletion, p.Arg29_Ala36del, identified in 7 families originating from the USA with a common founder. One of the 7 families had 5 segregations. A W350X nonsense mutation was found in 2 families, in which had 2 segregations and 1 segregation, respectively.
-
PUBMED:
18617546
Leroy BP et al (2009) studied probands with cCSNB from three unrelated large Flemish families from Belgium. DNA was extracted from peripheral blood, and the coding region of NYX along with parts of the 5'UTR and 3'UTR and intronic regions covering the splice sites were PCR amplified and sequenced. In the affected individuals of three Flemish families with the complete form of CSNB a novel NYX mutation, c.855delG was identified. This deletion is predicted to lead to a frameshift mutation, p.Asp286ThrfsX62 causing a premature stop codon. Two of the families >7 segregations, one family =6 segregations. PMID 22183355, Lodha N et al (2012). In a cohort of 199 patients diagnosed clinically with CSNB, 73 were diagnosed with X-inked cCSNB. They identified a total of 32 unique mutations in NYX, among which a 24-bp deletion resulted in the loss of the RACPAACA amino acids in the N-terminal Cys-rich region of nyctalopin, was detected in 12 North American Caucasian CSNB families.
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 (TS) Score Details
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.