Usher syndrome type 1B

Summary

Usher syndrome type 1B (MONDO:0700087) is a disease caused by MYO7A (GenCC Definitive), with 1 cohort gene and 3 clinical trials.

At a glance

• Causal gene: MYO7A (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 872
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Usher syndrome type 1B
Mondo ID	MONDO:0700087
MeSH	C536485
OMIM	276900
DOID	DOID:0070655
UMLS	C2931206
MedGen	419358
GARD	0005436
Is cancer (heuristic)	no

Also known as: Usher syndrome, type 1B

Data availability: 872 ClinVar variants · 2 ClinGen variant curations · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › Usher syndrome › Usher syndrome type 1 › Usher syndrome type 1B

Related subtypes (8): Usher syndrome type 1C, Usher syndrome type 1D, Usher syndrome type 1F, Usher syndrome type 1E, Usher syndrome type 1G, Usher syndrome type 1H, Usher syndrome type 1K, Usher syndrome, type 1D/F

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

600 retrieved; paginated sample, class counts are floors:

237 uncertain significance, 114 conflicting classifications of pathogenicity, 72 pathogenic/likely pathogenic, 56 pathogenic, 52 likely pathogenic, 35 likely benign, 20 benign/likely benign, 14 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1066518	NM_000260.4(MYO7A):c.5471_5480+5del	MYO7A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1070293	NM_000260.4(MYO7A):c.5623C>T (p.Gln1875Ter)	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
1070443	NM_000260.4(MYO7A):c.5300C>A (p.Ser1767Ter)	MYO7A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071057	NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter)	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
1074479	NM_000260.4(MYO7A):c.1003+1G>A	MYO7A	Pathogenic	criteria provided, single submitter
1076122	NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter)	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
1076994	NM_000260.4(MYO7A):c.1717del (p.Leu573fs)	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
11847	NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
11848	NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
11849	NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del)	MYO7A	Pathogenic	no assertion criteria provided
11850	NM_000260.4(MYO7A):c.635G>A (p.Arg212His)	MYO7A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1185084	NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter)	MYO7A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
11851	NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)	MYO7A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1185130	NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys)	MYO7A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
11856	NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)	MYO7A	Pathogenic	no assertion criteria provided
11858	NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
11859	NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
11860	NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
11861	MYO7A, IVS27AS, G-C, -1	MYO7A	Pathogenic	no assertion criteria provided
11864	NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del)	MYO7A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1194353	NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp)	MYO7A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1452974	NM_000260.4(MYO7A):c.1935+1G>A	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
1452979	NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter)	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
1454925	NM_000260.4(MYO7A):c.6228_6232del (p.Asp2076fs)	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
1455675	NM_000260.4(MYO7A):c.1059_1075del (p.Ala353_Thr354insTer)	MYO7A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1493312	NM_000260.4(MYO7A):c.6043T>C (p.Tyr2015His)	MYO7A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
164693	NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)	MYO7A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1700342	NM_000260.4(MYO7A):c.2164G>C (p.Gly722Arg)	MYO7A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
177712	NM_000260.4(MYO7A):c.470+1G>A	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts
177722	NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)	MYO7A	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 15 · Orphanet: 4 · 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
MYO7A	Definitive	Autosomal recessive	Usher syndrome type 1	15

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MYO7A	Orphanet:231169	Usher syndrome type 1
MYO7A	Orphanet:231178	Usher syndrome type 2
MYO7A	Orphanet:90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
MYO7A	Orphanet:90636	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

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
MYO7A	HGNC:7606	ENSG00000137474	Q13402	Unconventional myosin-VIIa	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MYO7A	Unconventional myosin-VIIa	Myosins are actin-based motor molecules with ATPase activity.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Scaffold/PPI	1	17.3×	0.058

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MYO7A	Scaffold/PPI	no		IQ_motif_EF-hand-BS, FERM_domain, MyTH4_dom

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
left adrenal gland	1
right adrenal gland	1
right adrenal gland cortex	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MYO7A	186	broad	marker	right adrenal gland cortex, right adrenal gland, left adrenal gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MYO7A	43

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MYO7A	Q13402	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 6. 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
The canonical retinoid cycle in rods (twilight vision)	1	519.1×	0.007	MYO7A
Sensory processing of sound	1	308.6×	0.007	MYO7A
Visual phototransduction	1	259.6×	0.007	MYO7A
Sensory processing of sound by outer hair cells of the cochlea	1	203.9×	0.007	MYO7A
Sensory processing of sound by inner hair cells of the cochlea	1	163.1×	0.007	MYO7A
Sensory Perception	1	95.2×	0.011	MYO7A

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
pigment granule transport	1	16852.0×	0.001	MYO7A
phagolysosome assembly	1	3370.4×	0.002	MYO7A
mechanoreceptor differentiation	1	3370.4×	0.002	MYO7A
equilibrioception	1	2407.4×	0.002	MYO7A
sensory perception of light stimulus	1	1872.4×	0.002	MYO7A
eye photoreceptor cell development	1	842.6×	0.003	MYO7A
auditory receptor cell stereocilium organization	1	842.6×	0.003	MYO7A
actin filament-based movement	1	802.5×	0.003	MYO7A
sensory organ development	1	674.1×	0.003	MYO7A
cochlea development	1	468.1×	0.004	MYO7A
lysosome organization	1	306.4×	0.005	MYO7A
actin filament organization	1	118.7×	0.012	MYO7A
intracellular protein localization	1	104.7×	0.012	MYO7A
sensory perception of sound	1	100.9×	0.012	MYO7A
endocytosis	1	95.2×	0.012	MYO7A
visual perception	1	79.5×	0.013	MYO7A
intracellular protein transport	1	64.8×	0.015	MYO7A

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
MYO7A	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	MYO7A

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)
MYO7A	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06591793	PHASE1/PHASE2	RECRUITING	Study of Subretinally Injected AAVB-081 in Patients With Usher Syndrome Type IB (USH1B) Retinitis Pigmentosa
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT03814499	Not specified	COMPLETED	Natural History Study in Subjects With Usher Syndrome