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Recognized gene
GNE
Normalized c.HGVS
c.*1012CA[14], c.*1012CA[15], c.*1012CA[22], c.-3G>A, c.1081T>C and 41 more
Normalized p.HGVS
p.(=), p.(Ala256Thr), p.(Ala624Val), p.(Ala705Thr), p.(Arg162His) and 36 more
Matching records
105
PM3-positive records
18
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| GNE |
NM_005476.7:c.1259G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with 1250C>T; c.1250C>T; T417M; +2 more
context: Confirmed in trans
|
35052006
Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.
Thrombosis and haemostasis, 2022
|
Main article | |
| GNE |
NM_005476.7:c.1259G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.416_426del; p.Ile139Argfs*4
context: Confirmed in trans
|
34858435
Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE.
Frontiers in immunology, 2021
|
Main article | |
| GNE |
NM_005476.7:c.748C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1225G>T; p.Asp409Tyr
context: Compound heterozygous candidate
|
39519852
Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.
Molecules (Basel, Switzerland), 2024
|
Main article | |
| GNE |
NM_005476.7:c.766G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1262C>T; p. Pro421Leu
context: Compound heterozygous candidate
|
37188302
Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.
Frontiers in neurology, 2023
|
Supplementary material | |
| GNE |
NM_005476.7:c.1246G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
36982178
Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.
International journal of molecular sciences, 2023
|
Main article | |
| GNE |
NM_005476.7:c.1742G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2218 G > A; p.Ala740Thr
context: Compound heterozygous candidate
|
36085325
Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy.
NPJ Regenerative medicine, 2022
|
Main article | |
| GNE |
NM_005476.7:c.1246G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
35414913
Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review.
Clinical case reports, 2022
|
Main article | |
| GNE |
NM_005476.7:c.1259G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35255501
Enhanced hepatic clearance of hyposialylated platelets explains thrombocytopenia in GNE-related macrothrombocytopenia.
Blood advances, 2022
|
Main article | |
| GNE |
NM_005476.7:c.1246G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35052006
Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.
Thrombosis and haemostasis, 2022
|
Main article | |
| GNE |
NM_005476.7:c.1246G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
34788986
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Haematologica, 2022
|
Main article | |
| GNE |
NM_005476.7:c.1639G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
34788986
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Haematologica, 2022
|
Main article | |
| GNE |
NM_005476.7:c.1639G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
33217855
Whole exome sequencing for diagnosis of hereditary thrombocytopenia.
Medicine, 2020
|
Main article | |
| GNE |
NM_005476.7:c.1246G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
33198675
Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.
BMC medical genetics, 2020
|
Main article | |
| GNE |
NM_005476.7:c.1871C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1132G>T; p.Asp378Tyr
context: Compound heterozygous candidate
|
32153140
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Annals of clinical and translational neurology, 2020
|
Supplementary material | |
| GNE |
NM_005476.7:c.766G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1262C>T; p.P421L
context: Compound heterozygous candidate
|
30112071
Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients.
Experimental and therapeutic medicine, 2018
|
Main article | |
| GNE |
NM_005476.7:c.1742G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
27858732
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.
Journal of neuromuscular diseases, 2015
|
Supplementary material | |
| GNE |
NM_005476.7:c.238G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1853T>C; p.Ile618Thr
context: Compound heterozygous candidate
|
24695763
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
Journal of neurology, neurosurgery, and psychiatry, 2014
|
Main article | |
| GNE |
NM_005476.7:c.748C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1225G>T; p.Asp409Tyr
context: Compound heterozygous candidate
|
24695763
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
Journal of neurology, neurosurgery, and psychiatry, 2014
|
Main article | |
| GNE |
NM_005476.7:c.329A>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41709876
Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population.
Frontiers in genetics, 2026
|
Main article | |
| GNE |
NM_005476.7:c.1703G>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40515848
Basal cell adenoma with S100 protein-positive "stroma": a distinct triphasic salivary gland neoplasm characterized by CTNNB1 mutation.
Virchows Archiv : an international journal of pathology, 2026
|
Main article | |