Retinitis pigmentosa 68

disease

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Also known as retinitis pigmentosa caused by mutation in SLC7A14retinitis pigmentosa type 68RP68SLC7A14 retinitis pigmentosa

Summary

Retinitis pigmentosa 68 (MONDO:0014323) is a disease caused by SLC7A14 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: SLC7A14 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 13

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 68
Mondo ID	MONDO:0014323
OMIM	615725
DOID	DOID:0110374
UMLS	C3810380
MedGen	816710
GARD	0016004
Is cancer (heuristic)	no

Also known as: retinitis pigmentosa 68 · retinitis pigmentosa caused by mutation in SLC7A14 · retinitis pigmentosa type 68 · RP68 · SLC7A14 retinitis pigmentosa

Data availability: 13 ClinVar variants · 3 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 68

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

13 retrieved; paginated sample, class counts are floors:

4 uncertain significance, 2 benign, 2 benign/likely benign, 2 pathogenic, 2 conflicting classifications of pathogenicity, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
126447	NM_020949.3(SLC7A14):c.2122T>G (p.Phe708Val)	SLC7A14	Pathogenic	no assertion criteria provided
126449	NM_020949.3(SLC7A14):c.395C>T (p.Ala132Val)	SLC7A14	Pathogenic	no assertion criteria provided
126448	NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe)	SLC7A14	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
847045	NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu)	SLC7A14	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
4080119	NM_020949.3(SLC7A14):c.-152-6857C>T	SLC7A14	Uncertain significance	criteria provided, single submitter
587502	NM_020949.3(SLC7A14):c.1246C>T (p.Leu416Phe)	SLC7A14	Uncertain significance	criteria provided, multiple submitters, no conflicts
836551	NM_020949.3(SLC7A14):c.1008C>G (p.Phe336Leu)	SLC7A14	Uncertain significance	criteria provided, multiple submitters, no conflicts
864243	NM_020949.3(SLC7A14):c.1976C>T (p.Ala659Val)	SLC7A14	Uncertain significance	criteria provided, multiple submitters, no conflicts
1079911	NM_020949.3(SLC7A14):c.1515C>T (p.Asn505=)	SLC7A14	Likely benign	criteria provided, multiple submitters, no conflicts
1164900	NM_020949.3(SLC7A14):c.1173G>A (p.Ser391=)	SLC7A14	Benign	criteria provided, multiple submitters, no conflicts
1168144	NM_020949.3(SLC7A14):c.1116-12C>T	SLC7A14	Benign	criteria provided, multiple submitters, no conflicts
126446	NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg)	SLC7A14	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
782244	NM_020949.3(SLC7A14):c.2164G>A (p.Gly722Arg)	SLC7A14	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · 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
SLC7A14	Strong	Autosomal recessive	retinitis pigmentosa 68	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SLC7A14	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
SLC7A14	HGNC:29326	ENSG00000013293	Q8TBB6	Solute carrier family 7 member 14	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SLC7A14	Solute carrier family 7 member 14	Imports 4-aminobutanoate (GABA) into lysosomes.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SLC7A14	Other/Unknown	no		AA/rel_permease1, CAT_C

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
Brodmann (1909) area 46	1
cerebellar vermis	1
postcentral gyrus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SLC7A14	140	broad	marker	cerebellar vermis, postcentral gyrus, Brodmann (1909) area 46

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SLC7A14	1,969

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SLC7A14	Q8TBB6	72.68

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
gamma-aminobutyric acid import	1	2808.7×	7e-04	SLC7A14
amino acid transport	1	312.1×	0.003	SLC7A14

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
SLC7A14	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	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	SLC7A14

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)
SLC7A14	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: SLC7A14