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 56 29 6
Glm9 56 73
Glioma, Susceptibility to, Type 9 39
Glioma 9 73

Characteristics:

OMIM:

56
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 56 616568
OMIM Phenotypic Series 56 PS137800
MeSH 43 D005910

Summaries for Glioma Susceptibility 9

UniProtKB/Swiss-Prot : 73 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:

56
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

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 12)
# Title Authors PMID Year
1
Germline mutations in shelterin complex genes are associated with familial glioma. 56 6
25482530 2015
2
NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 6
22138009 2011
3
Intracranial Neoplasms in the First Year of Life: Results of a Third Cohort of Patients From a Single Institution. 61
29617945 2019
4
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
5
Central nervous system (CNS) tumor trends in children in a western Canadian province: a population-based 22-year retrospective study. 61
22109636 2012
6
Canine intracranial neoplasia: clinical risk factors for development of epileptic seizures. 61
21954970 2011
7
Durable response of a radiation-induced, high-grade cerebellar glioma to temozolomide. 61
17332945 2007
8
Blood tumor permeability of experimental brain tumor: an electron microscopic study using lanthanum. 61
15822815 2005
9
A phase I study of intravenous RMP-7 with carboplatin in patients with progression of malignant glioma. 61
9893673 1998
10
Interstitial brachytherapy versus cytoreductive surgery in recurrent malignant glioma. 61
7624640 1994
11
Brain stem auditory evoked potentials as a tool in the clinical assessment of children with posterior fossa tumors. 61
3655207 1987
12
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 GRCh37 Pos GRCh38 Pos
1 POT1 NM_015450.3(POT1):c.1348G>T (p.Glu450Ter)SNV risk factor 209094 rs797045169 7:124481048-124481048 7:124840994-124840994
2 POT1 NM_015450.3(POT1):c.1851_1852del (p.Asp617fs)deletion Conflicting interpretations of pathogenicity 209095 rs758673417 7:124464069-124464070 7:124824015-124824016
3 POT1 NM_015450.3(POT1):c.1416T>G (p.Ser472Arg)SNV Uncertain significance 475044 rs146643991 7:124475422-124475422 7:124835368-124835368
4 POT1 NM_015450.3(POT1):c.283G>T (p.Gly95Cys)SNV Uncertain significance 209093 rs797045168 7:124503667-124503667 7:124863613-124863613

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

73
# 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 COSM106156998 ZNF697 central nervous system,NS,glioma,astrocytoma Grade IV c.1550G>A p.G517D 1:119622793-119622793 3
10 COSM93171584 ZNF687 central nervous system,NS,glioma,astrocytoma Grade IV c.3651C>T p.T1217= 1:151291146-151291146 3
11 COSM93173649 ZNF687 central nervous system,NS,glioma,astrocytoma Grade IV c.2044T>A p.C682S 1:151288335-151288335 3
12 COSM93173639 ZNF687 central nervous system,NS,glioma,astrocytoma Grade IV c.2043G>C p.Q681H 1:151288334-151288334 3
13 COSM91851905 ZNF507 central nervous system,NS,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 3
14 COSM141790125 ZNF473 central nervous system,NS,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 3
15 COSM116582422 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 3
16 COSM116576154 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade IV c.2162T>G p.V721G 20:47246130-47246130 3
17 COSM143109865 ZMYM2 central nervous system,NS,glioma,astrocytoma Grade IV c.1134-1G>T p.? 13:20005073-20005073 3
18 COSM85100068 ZMAT4 central nervous system,NS,glioma,astrocytoma Grade IV c.76G>A p.E26K 8:40825601-40825601 3
19 COSM149300699 ZFHX3 central nervous system,NS,glioma,astrocytoma Grade IV c.8198G>A p.R2733H 16:72794484-72794484 3
20 COSM149299313 ZFHX3 central nervous system,NS,glioma,astrocytoma Grade IV c.145C>T p.P49S 16:72960001-72960001 3
21 COSM149332069 ZFHX3 central nervous system,NS,glioma,oligodendroglioma c.2680G>A p.D894N 16:72957466-72957466 3
22 COSM149314219 ZFHX3 central nervous system,NS,glioma,astrocytoma Grade IV c.1819G>A p.E607K 16:72958327-72958327 3
23 COSM149332063 ZFHX3 central nervous system,NS,glioma,oligodendroglioma c.9154G>A p.V3052I 16:72793528-72793528 3
24 COSM149268215 ZFHX3 central nervous system,NS,glioma,oligodendroglioma c.6025T>C p.Y2009H 16:72796657-72796657 3
25 COSM149261414 ZFHX3 central nervous system,NS,glioma,oligodendroglioma c.8300G>A p.G2767E 16:72794382-72794382 3
26 COSM149332473 ZFHX3 central nervous system,NS,glioma,astrocytoma Grade IV c.4279G>A p.A1427T 16:72798403-72798403 3
27 COSM149260463 ZFHX3 central nervous system,NS,glioma,astrocytoma Grade IV c.8647A>G p.M2883V 16:72794035-72794035 3
28 COSM149318917 ZFHX3 central nervous system,NS,glioma,oligodendroglioma c.8600C>T p.S2867F 16:72794082-72794082 3
29 COSM149322400 ZFHX3 central nervous system,NS,glioma,astrocytoma Grade IV c.934G>A p.D312N 16:72959212-72959212 3
30 COSM149332483 ZFHX3 central nervous system,NS,glioma,astrocytoma Grade IV c.461G>A p.G154E 16:72959685-72959685 3
31 COSM149301326 ZFHX3 central nervous system,NS,glioma,astrocytoma Grade IV c.3607G>T p.E1203* 16:72811961-72811961 3
32 COSM149290610 ZFHX3 central nervous system,NS,glioma,oligodendroglioma c.3986G>A p.G1329E 16:72798696-72798696 3
33 COSM99901198 ZFC3H1 central nervous system,NS,glioma,astrocytoma Grade IV c.1055G>A p.S352N 12:71647774-71647774 3
34 COSM101569963 ZFAT central nervous system,NS,glioma,astrocytoma Grade IV c.1042G>A p.V348M 8:134602677-134602677 3
35 COSM95277357 ZEB1 central nervous system,NS,glioma,astrocytoma Grade IV c.1916C>T p.S639L 10:31521248-31521248 3
36 COSM103622530 ZC3H6 central nervous system,NS,glioma,astrocytoma Grade IV c.2254G>T p.G752* 2:112331172-112331172 3
37 COSM91491845 ZBTB4 central nervous system,NS,glioma,astrocytoma Grade IV c.2842C>T p.L948F 17:7462140-7462140 3
38 COSM84837968 ZBTB24 central nervous system,NS,glioma,astrocytoma Grade IV c.1886C>T p.P629L 6:109466059-109466059 3
39 COSM90915425 ZBTB21 central nervous system,NS,glioma,astrocytoma Grade IV c.997G>A p.G333S 21:41993099-41993099 3
40 COSM90305990 ZBTB16 central nervous system,NS,glioma,astrocytoma Grade IV c.413C>T p.A138V 11:114063713-114063713 3
41 COSM143644232 ZAN central nervous system,NS,glioma,astrocytoma Grade IV c.7726G>A p.D2576N 7:100792418-100792418 3
42 COSM143637592 ZAN central nervous system,NS,glioma,astrocytoma Grade IV c.5014T>A p.Y1672N 7:100767984-100767984 3
43 COSM84602556 YWHAH central nervous system,NS,glioma,astrocytoma Grade IV c.169C>T p.R57* 22:31956220-31956220 3
44 COSM84307194 YTHDC2 central nervous system,NS,glioma,astrocytoma Grade IV c.782C>T p.A261V 5:113532985-113532985 3
45 COSM152021881 YES1 central nervous system,NS,glioma,astrocytoma Grade IV c.832C>T p.R278* 18:743308-743308 3
46 COSM152022185 YES1 central nervous system,NS,glioma,astrocytoma Grade IV c.1153G>A p.A385T 18:736946-736946 3
47 COSM152022282 YES1 central nervous system,NS,glioma,oligodendroglioma c.259G>C p.A87P 18:756569-756569 3
48 COSM143036122 YAP1 central nervous system,NS,glioma,astrocytoma Grade IV c.538G>A p.A180T 11:102114360-102114360 3
49 COSM143035411 YAP1 central nervous system,NS,glioma,astrocytoma Grade IV c.1181C>T p.T394I 11:102227474-102227474 3
50 COSM143036045 YAP1 central nervous system,NS,glioma,oligodendroglioma c.1024G>A p.A342T 11:102209544-102209544 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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