Retinitis pigmentosa 45

Summary

Retinitis pigmentosa 45 (MONDO:0013413) is a disease caused by CNGB1 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: CNGB1 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 139

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 45
Mondo ID	MONDO:0013413
OMIM	613767
DOID	DOID:0110402
UMLS	C3151066
MedGen	462416
GARD	0015704
Is cancer (heuristic)	no

Also known as: CNGB1 retinitis pigmentosa · retinitis pigmentosa 45 · retinitis pigmentosa caused by mutation in CNGB1 · retinitis pigmentosa type 45 · RP45

Data availability: 139 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › retinitis pigmentosa › retinitis pigmentosa 45

Related subtypes (101): retinitis pigmentosa 6, cone-rod dystrophy 2, retinitis pigmentosa 1, retinitis pigmentosa 9, retinitis pigmentosa 10, dominant pericentral pigmentary retinopathy, late-adult onset retinitis pigmentosa, autosomal recessive pericentral pigmentary retinopathy, retinitis pigmentosa 3, retinitis pigmentosa 24, retinitis pigmentosa 23, retinitis pigmentosa 34, retinitis pigmentosa 2, retinitis pigmentosa Y-linked, retinitis pigmentosa 13, retinitis pigmentosa 12, retinitis pigmentosa 14, retinitis pigmentosa 11, retinitis pigmentosa 17, retinitis pigmentosa 18, retinitis pigmentosa 19, retinitis pigmentosa 22, retinitis pigmentosa 25, retinitis pigmentosa 28, retinitis pigmentosa 30, retinitis pigmentosa 7, retinitis pigmentosa 26, retinitis pigmentosa 32, retinitis pigmentosa 31, retinitis pigmentosa 35, retinitis pigmentosa 33, retinitis pigmentosa 36, retinitis pigmentosa 37, retinitis pigmentosa 41, retinitis pigmentosa 29, retinitis pigmentosa 46, retinitis pigmentosa 42, retinitis pigmentosa 50, retinitis pigmentosa 54, retinitis pigmentosa 51, retinitis pigmentosa 55, retinitis pigmentosa 56, retinitis pigmentosa 57, retinitis pigmentosa 58, cone-rod dystrophy 15, retinitis pigmentosa 4, retinitis pigmentosa 27, retinitis pigmentosa 49, retinitis pigmentosa 47, retinitis pigmentosa 44, retinitis pigmentosa 20, retinitis pigmentosa 40, retinitis pigmentosa 39, retinitis pigmentosa 43, retinitis pigmentosa 48, retinitis pigmentosa 59, retinitis pigmentosa 38, retinitis pigmentosa 60, retinitis pigmentosa 61, retinitis pigmentosa 62, retinitis pigmentosa 63, cone-rod dystrophy 16, retinitis pigmentosa 66, retinitis pigmentosa with or without situs inversus, retinitis pigmentosa 67, retinitis pigmentosa 68, retinitis pigmentosa 69, retinitis pigmentosa 70, retinal dystrophy and obesity, retinitis pigmentosa 71, retinitis pigmentosa 72, retinitis pigmentosa 73, retinitis pigmentosa 74, retinitis pigmentosa 75, retinitis pigmentosa 76, retinitis pigmentosa 77, retinitis pigmentosa 92, retinitis pigmentosa 93, retinitis pigmentosa 83, retinitis pigmentosa 84, retinitis pigmentosa 85, retinitis pigmentosa 86, retinitis pigmentosa 87 with choroidal involvement, retinitis pigmentosa 88, retinitis pigmentosa 90, retinitis pigmentosa 81, retinitis pigmentosa 78, retinitis pigmentosa 79, retinitis pigmentosa 80, retinitis pigmentosa 94, variable age at onset, retinitis pigmentosa 53, retinitis pigmentosa 65, retinitis pigmentosa 64, retinitis pigmentosa 95, retinitis pigmentosa 96, retinitis pigmentosa 97, retinitis pigmentosa 98, retinitis pigmentosa 99, retinitis pigmentosa 100, retinitis pigmentosa 101, retinitis pigmentosa 7, digenic

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

139 retrieved; paginated sample, class counts are floors:

43 likely pathogenic, 26 pathogenic/likely pathogenic, 20 conflicting classifications of pathogenicity, 16 uncertain significance, 15 pathogenic, 15 benign, 4 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1031963	NM_001297.5(CNGB1):c.1217G>A (p.Trp406Ter)	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1051630	NM_001297.5(CNGB1):c.2029C>T (p.Arg677Cys)	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1066008	NM_001297.5(CNGB1):c.583+2T>C	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1074017	NM_001297.5(CNGB1):c.1684del (p.Ala562fs)	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1074156	NM_001297.5(CNGB1):c.1644-2A>G	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1177437	NM_001297.5(CNGB1):c.1492del (p.Ser498fs)	CNGB1	Pathogenic	no assertion criteria provided
1322098	NM_001297.5(CNGB1):c.2775G>A (p.Trp925Ter)	CNGB1	Pathogenic	criteria provided, multiple submitters, no conflicts
1333519	NM_001297.5(CNGB1):c.2544del (p.Leu849fs)	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1425748	NM_001297.5(CNGB1):c.16C>T (p.Gln6Ter)	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
143124	NM_001297.5(CNGB1):c.217+5G>C	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1494232	NM_001297.5(CNGB1):c.2977-1G>A	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1516577	NM_001297.5(CNGB1):c.2030G>A (p.Arg677His)	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1921317	NM_001297.5(CNGB1):c.1730_1731insC (p.Glu577fs)	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
236511	NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
236512	NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter)	CNGB1	Pathogenic	criteria provided, single submitter
280141	NM_001297.5(CNGB1):c.3150del (p.Phe1051fs)	CNGB1	Pathogenic	criteria provided, multiple submitters, no conflicts
2804274	NM_001297.5(CNGB1):c.1977G>A (p.Trp659Ter)	CNGB1	Pathogenic	criteria provided, multiple submitters, no conflicts
3632273	NM_001297.5(CNGB1):c.816_819del (p.His273fs)	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
369953	NM_001297.5(CNGB1):c.2893-7G>A	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
420197	NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs)	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
420589	NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter)	CNGB1	Pathogenic	criteria provided, multiple submitters, no conflicts
424380	NM_001297.5(CNGB1):c.1120_1121+2del	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
425109	NM_001297.5(CNGB1):c.2794+1G>A	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
437971	NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter)	CNGB1	Pathogenic	criteria provided, multiple submitters, no conflicts
437972	NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
437975	NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs)	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
437976	NM_001297.5(CNGB1):c.413-1G>A	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
444372	NM_001297.5(CNGB1):c.2867del (p.Ile956fs)	CNGB1	Pathogenic	criteria provided, multiple submitters, no conflicts
489134	NM_001297.5(CNGB1):c.315G>A (p.Trp105Ter)	CNGB1	Pathogenic	criteria provided, multiple submitters, no conflicts
631755	NM_001297.5(CNGB1):c.534+1G>A	CNGB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
CNGB1	Definitive	Autosomal recessive	retinitis pigmentosa 45	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CNGB1	Orphanet:791	Retinitis pigmentosa

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CNGB1	HGNC:2151	ENSG00000070729	Q14028	Cyclic nucleotide-gated channel beta-1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CNGB1	Cyclic nucleotide-gated channel beta-1	Pore-forming subunit of the rod cyclic nucleotide-gated channel.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Ion channel	1	111.5×	0.009

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CNGB1	Ion channel	yes		cNMP-bd_dom, Ion_trans_dom, RmlC-like_jellyroll

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
buccal mucosa cell	1
cervix squamous epithelium	1
olfactory bulb	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CNGB1	152	tissue_specific	marker	buccal mucosa cell, cervix squamous epithelium, olfactory bulb

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CNGB1	1,133

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CNGB1	Q14028	11

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Activation of the phototransduction cascade	1	951.7×	0.004	CNGB1
VxPx cargo-targeting to cilium	1	519.1×	0.004	CNGB1
Inactivation, recovery and regulation of the phototransduction cascade	1	317.2×	0.004	CNGB1
Olfactory Signaling Pathway	1	144.6×	0.007	CNGB1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
olfactory nerve maturation	1	5617.3×	0.003	CNGB1
response to odorant	1	2808.7×	0.003	CNGB1
retina homeostasis	1	1123.5×	0.004	CNGB1
photoreceptor cell outer segment organization	1	1053.2×	0.004	CNGB1
monoatomic cation transport	1	766.0×	0.004	CNGB1
detection of light stimulus involved in visual perception	1	648.1×	0.004	CNGB1
monoatomic cation transmembrane transport	1	624.1×	0.004	CNGB1
membrane depolarization	1	510.7×	0.004	CNGB1
phototransduction	1	495.6×	0.004	CNGB1
regulation of cytosolic calcium ion concentration	1	383.0×	0.005	CNGB1
photoreceptor cell maintenance	1	358.6×	0.005	CNGB1
sodium ion transport	1	271.8×	0.006	CNGB1
potassium ion transport	1	191.5×	0.007	CNGB1
calcium ion transport	1	181.2×	0.007	CNGB1
sensory perception of smell	1	156.0×	0.008	CNGB1
detection of chemical stimulus involved in sensory perception of smell	1	123.9×	0.010	CNGB1
visual perception	1	79.5×	0.014	CNGB1
positive regulation of gene expression	1	38.7×	0.027	CNGB1
G protein-coupled receptor signaling pathway	1	36.2×	0.028	CNGB1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CNGB1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	CNGB1
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
CNGB1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.