GLM9
MCID: GLM043
MIFTS: 30

Glioma Susceptibility 9 (GLM9)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glioma Susceptibility 9

MalaCards integrated aliases for Glioma Susceptibility 9:

Name: Glioma Susceptibility 9 57 29 6
Glm9 57 72
Glioma, Susceptibility to, Type 9 39
Glioma 9 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
adult onset
incomplete penetrance
three unrelated families have been reported (last curated september 2015)

Inheritance:
autosomal dominant


HPO:

31
glioma susceptibility 9:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:



External Ids:

OMIM® 57 616568
OMIM Phenotypic Series 57 PS137800
MeSH 44 D005910

Summaries for Glioma Susceptibility 9

UniProtKB/Swiss-Prot : 72 Glioma 9: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.

MalaCards based summary : Glioma Susceptibility 9, is also known as glm9. An important gene associated with Glioma Susceptibility 9 is POT1 (Protection Of Telomeres 1). Affiliated tissues include kidney, lung and brain, and related phenotypes are leukemia and astrocytoma

More information from OMIM: 616568 PS137800

Related Diseases for Glioma Susceptibility 9

Symptoms & Phenotypes for Glioma Susceptibility 9

Human phenotypes related to Glioma Susceptibility 9:

31
# Description HPO Frequency HPO Source Accession
1 leukemia 31 HP:0001909
2 astrocytoma 31 HP:0009592

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
glioma, increased risk of
astrocytoma, increased risk of
oligodendrogliomas, increased risk of
increased risk of other cancers (e.g., kidney cancer, lung cancer, and leukemia)

Clinical features from OMIM®:

616568 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glioma Susceptibility 9

Search Clinical Trials , NIH Clinical Center for Glioma Susceptibility 9

Genetic Tests for Glioma Susceptibility 9

Genetic tests related to Glioma Susceptibility 9:

# Genetic test Affiliating Genes
1 Glioma Susceptibility 9 29 POT1

Anatomical Context for Glioma Susceptibility 9

MalaCards organs/tissues related to Glioma Susceptibility 9:

40
Kidney, Lung, Brain

Publications for Glioma Susceptibility 9

Articles related to Glioma Susceptibility 9:

(show all 11)
# Title Authors PMID Year
1
Germline mutations in shelterin complex genes are associated with familial glioma. 57 6
25482530 2015
2
Intracranial Neoplasms in the First Year of Life: Results of a Third Cohort of Patients From a Single Institution. 61
29617945 2019
3
Preliminary feasibility study on differential diagnosis between radiation-induced cerebral necrosis and recurrent brain tumor by means of [18F]fluoro-borono-phenylalanine PET/CT. 61
30194665 2018
4
Central nervous system (CNS) tumor trends in children in a western Canadian province: a population-based 22-year retrospective study. 61
22109636 2012
5
Canine intracranial neoplasia: clinical risk factors for development of epileptic seizures. 61
21954970 2011
6
Durable response of a radiation-induced, high-grade cerebellar glioma to temozolomide. 61
17332945 2007
7
Blood tumor permeability of experimental brain tumor: an electron microscopic study using lanthanum. 61
15822815 2005
8
A phase I study of intravenous RMP-7 with carboplatin in patients with progression of malignant glioma. 61
9893673 1998
9
Interstitial brachytherapy versus cytoreductive surgery in recurrent malignant glioma. 61
7624640 1994
10
Brain stem auditory evoked potentials as a tool in the clinical assessment of children with posterior fossa tumors. 61
3655207 1987
11
Phase II trial of intracarotid BCNU and cisplatin in primary malignant brain tumors. 61
3708537 1986

Variations for Glioma Susceptibility 9

ClinVar genetic disease variations for Glioma Susceptibility 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POT1 NM_015450.3(POT1):c.1348G>T (p.Glu450Ter) SNV risk factor 209094 rs797045169 GRCh37: 7:124481048-124481048
GRCh38: 7:124840994-124840994
2 POT1 NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) Deletion risk factor 209095 rs758673417 GRCh37: 7:124464069-124464070
GRCh38: 7:124824015-124824016
3 POT1 NM_015450.3(POT1):c.283G>T (p.Gly95Cys) SNV risk factor 209093 rs797045168 GRCh37: 7:124503667-124503667
GRCh38: 7:124863613-124863613
4 POT1 NM_015450.3(POT1):c.1416T>G (p.Ser472Arg) SNV Uncertain significance 475044 rs146643991 GRCh37: 7:124475422-124475422
GRCh38: 7:124835368-124835368

UniProtKB/Swiss-Prot genetic disease variations for Glioma Susceptibility 9:

72
# Symbol AA change Variation ID SNP ID
1 POT1 p.Gly95Cys VAR_075717 rs797045168

Cosmic variations for Glioma Susceptibility 9:

9 (show top 50) (show all 19971)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM85192834 ZW10 central nervous system,NS,glioma,astrocytoma Grade IV c.2140C>T p.P714S 11:113736699-113736699 3
2 COSM86922763 ZSWIM4 central nervous system,NS,glioma,astrocytoma Grade IV c.266C>T p.P89L 19:13799832-13799832 3
3 COSM88263742 ZRSR2 central nervous system,NS,glioma,astrocytoma Grade IV c.340C>T p.Q114* 23:15804138-15804138 3
4 COSM88261602 ZRSR2 central nervous system,NS,glioma,astrocytoma Grade IV c.961C>T p.P321S 23:15822754-15822754 3
5 COSM88263021 ZRSR2 central nervous system,NS,glioma,astrocytoma Grade IV c.260G>A p.R87K 23:15803744-15803744 3
6 COSM88261596 ZRSR2 central nervous system,NS,glioma,astrocytoma Grade IV c.271G>A p.E91K 23:15803755-15803755 3
7 COSM88262556 ZRSR2 central nervous system,NS,glioma,oligodendroglioma c.220G>A p.E74K 23:15803704-15803704 3
8 COSM87830624 ZPLD1 central nervous system,NS,glioma,astrocytoma Grade IV c.393A>T p.G131= 3:102456210-102456210 3
9 COSM119316158 ZPLD1 central nervous system,NS,glioma,astrocytoma Grade IV c.345A>T p.G115= 3:102456210-102456210 3
10 COSM116178212 ZPLD1 central nervous system,NS,glioma,astrocytoma Grade IV c.345A>T p.G115= 3:102456210-102456210 3
11 COSM106156998 ZNF697 central nervous system,NS,glioma,astrocytoma Grade IV c.1550G>A p.G517D 1:119622793-119622793 3
12 COSM93171584 ZNF687 central nervous system,NS,glioma,astrocytoma Grade IV c.3651C>T p.T1217= 1:151291146-151291146 3
13 COSM93173649 ZNF687 central nervous system,NS,glioma,astrocytoma Grade IV c.2044T>A p.C682S 1:151288335-151288335 3
14 COSM93173639 ZNF687 central nervous system,NS,glioma,astrocytoma Grade IV c.2043G>C p.Q681H 1:151288334-151288334 3
15 COSM92762364 ZNF507 central nervous system,NS,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 3
16 COSM91851905 ZNF507 central nervous system,NS,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 3
17 COSM130988554 ZNF507 central nervous system,NS,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 3
18 COSM141250987 ZNF473 central nervous system,NS,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 3
19 COSM84172269 ZNF473 central nervous system,NS,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 3
20 COSM141790125 ZNF473 central nervous system,NS,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 3
21 COSM99924035 ZNF473 central nervous system,NS,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 3
22 COSM111538647 ZNF473 central nervous system,NS,glioma,astrocytoma Grade IV c.6C>T p.D2= 19:50039193-50039193 3
23 COSM84507966 ZNF276 central nervous system,NS,glioma,astrocytoma Grade IV c.*664G>A p.? 16:89738910-89738910 3
24 COSM102909520 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 3
25 COSM116582422 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 3
26 COSM92864918 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 3
27 COSM111370233 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 3
28 COSM91410147 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 3
29 COSM97055096 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.1913T>G p.V638G 20:47246130-47246130 3
30 COSM112970642 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 3
31 COSM92871777 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 3
32 COSM85475347 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 3
33 COSM143801239 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2041G>A p.D681N 20:47246116-47246116 3
34 COSM114834078 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2087T>G p.V696G 20:47246130-47246130 3
35 COSM114839982 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2101G>A p.D701N 20:47246116-47246116 3
36 COSM91535436 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 3
37 COSM91528627 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2162T>G p.V721G 20:47246130-47246130 3
38 COSM133275210 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.1960G>A p.D654N 20:47246116-47246116 3
39 COSM143618110 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 3
40 COSM111362863 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 3
41 COSM91401933 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 3
42 COSM130874736 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2197G>A p.D733N 20:47246116-47246116 3
43 COSM116576154 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2162T>G p.V721G 20:47246130-47246130 3
44 COSM143862983 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2101G>A p.D701N 20:47246116-47246116 3
45 COSM143796197 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2027T>G p.V676G 20:47246130-47246130 3
46 COSM102902986 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 3
47 COSM133265728 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.1946T>G p.V649G 20:47246130-47246130 3
48 COSM85483642 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 3
49 COSM112964306 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2162T>G p.V721G 20:47246130-47246130 3
50 COSM143856741 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2087T>G p.V696G 20:47246130-47246130 3

Expression for Glioma Susceptibility 9

Search GEO for disease gene expression data for Glioma Susceptibility 9.

Pathways for Glioma Susceptibility 9

GO Terms for Glioma Susceptibility 9

Sources for Glioma Susceptibility 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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