Congenital Stationary Night Blindness

Gene: CABP4

Green List (high evidence)

CABP4 (calcium binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000175544
EnsemblGeneIds (GRCh37): ENSG00000175544
OMIM: 608965, Gene2Phenotype
CABP4 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital nonprogressive cone-rod synaptic disorder is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses. More than 5 unrelated families reported.

Commonly found in CSNB cohorts eg PMID 33369259
Created: 15 Oct 2022, 7:43 a.m. | Last Modified: 15 Oct 2022, 7:43 a.m.
Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427
OMIM
608965
Clinvar variants
Variants in CABP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cabp4 has been classified as Green List (High Evidence).

15 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CABP4 were set to

24 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CABP4 was added gene: CABP4 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CABP4 were set to Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427