FANCG
MCID: FNC030
MIFTS: 38

Fanconi Anemia, Complementation Group G (FANCG)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group G

MalaCards integrated aliases for Fanconi Anemia, Complementation Group G:

Name: Fanconi Anemia, Complementation Group G 57 29 13 6 39
Fanconi Anemia Complementation Group G 12 72 15 17 70
Fancg 57 12 72

Classifications:



Summaries for Fanconi Anemia, Complementation Group G

OMIM® : 57 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (614082) (Updated 05-Apr-2021)

MalaCards based summary : Fanconi Anemia, Complementation Group G, also known as fanconi anemia complementation group g, is related to fanconi anemia, complementation group a and fanconi anemia, complementation group e. An important gene associated with Fanconi Anemia, Complementation Group G is FANCG (FA Complementation Group G). Affiliated tissues include bone marrow and myeloid, and related phenotypes are microcephaly and growth delay

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13.

UniProtKB/Swiss-Prot : 72 Fanconi anemia complementation group G: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Related Diseases for Fanconi Anemia, Complementation Group G

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group G via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group a 11.3
2 fanconi anemia, complementation group e 11.3
3 colorectal cancer 11.2
4 pancreatic cancer 11.2
5 deficiency anemia 11.1
6 pancytopenia 11.0
7 fanconi anemia, complementation group d2 11.0
8 squamous cell carcinoma, head and neck 11.0
9 xeroderma pigmentosum, variant type 11.0
10 fanconi anemia, complementation group f 11.0
11 esophageal atresia 11.0
12 pituitary stalk interruption syndrome 11.0
13 fanconi anemia, complementation group d1 10.9
14 aplastic anemia 10.9
15 hereditary breast ovarian cancer syndrome 10.9
16 fanconi anemia, complementation group j 10.9
17 fanconi anemia, complementation group b 10.8
18 fanconi anemia, complementation group n 10.8
19 fanconi anemia, complementation group o 10.8
20 fanconi anemia, complementation group p 10.8
21 fanconi anemia, complementation group q 10.8
22 fanconi anemia, complementation group t 10.8
23 fanconi anemia, complementation group v 10.8
24 fanconi anemia, complementation group r 10.8
25 peliosis hepatis 10.8
26 fanconi anemia, complementation group c 10.5
27 autosomal recessive disease 10.2
28 fanconi anemia, complementation group i 10.1
29 allergic disease 10.1
30 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
31 leukemia, acute myeloid 10.0
32 fanconi anemia, complementation group l 10.0
33 breast cancer 9.8
34 ouabain resistance 9.8
35 mutagen sensitivity 9.8
36 myelodysplastic syndrome 9.8
37 palmoplantar carcinoma, multiple self-healing 9.8
38 mucositis 9.8
39 rapidly involuting congenital hemangioma 9.8
40 squamous cell carcinoma 9.8
41 hypogonadism 9.8
42 iron metabolism disease 9.8
43 myeloid leukemia 9.8
44 48,xyyy 9.8
45 inherited bone marrow failure syndromes 9.8
46 oral cancer 9.8

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group G:



Diseases related to Fanconi Anemia, Complementation Group G

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group G

Human phenotypes related to Fanconi Anemia, Complementation Group G:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 growth delay 31 very rare (1%) HP:0001510
3 microphthalmia 31 very rare (1%) HP:0000568
4 anemia 31 HP:0001903
5 thrombocytopenia 31 HP:0001873
6 myelodysplasia 31 HP:0002863
7 abnormality of chromosome stability 31 HP:0003220
8 multiple cafe-au-lait spots 31 HP:0007565
9 leukemia 31 HP:0001909
10 neutropenia 31 HP:0001875
11 abnormal thumb morphology 31 HP:0001172

Clinical features from OMIM®:

614082 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fanconi Anemia, Complementation Group G

Search Clinical Trials , NIH Clinical Center for Fanconi Anemia, Complementation Group G

Genetic Tests for Fanconi Anemia, Complementation Group G

Genetic tests related to Fanconi Anemia, Complementation Group G:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group G 29 FANCG

Anatomical Context for Fanconi Anemia, Complementation Group G

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group G:

40
Bone Marrow, Myeloid

Publications for Fanconi Anemia, Complementation Group G

Articles related to Fanconi Anemia, Complementation Group G:

(show all 18)
# Title Authors PMID Year
1
Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study. 6 57
12552564 2003
2
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. 6 57
11093276 2000
3
The Fanconi anaemia group G gene FANCG is identical with XRCC9. 57 6
9806548 1998
4
Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4. 6
24763404 2014
5
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 6
23613520 2013
6
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 6
22778927 2012
7
Fanconi anemia: at the crossroads of DNA repair. 57
21568838 2011
8
Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 6
17924555 2008
9
Spectrum and significance of variants and mutations in the Fanconi anaemia group G gene in children with sporadic acute myeloid leukaemia. 6
16643430 2006
10
A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients. 6
16084127 2005
11
A common Fanconi anemia mutation in black populations of sub-Saharan Africa. 6
15657175 2005
12
Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9. 6
11438206 2001
13
Phylogenetic relationships of human populations in sub-Saharan Africa. 6
11126723 2000
14
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. 6
10807541 2000
15
Single-Molecule Sequencing: A New Approach for Preimplantation Testing and Noninvasive Prenatal Diagnosis Confirmation of Fetal Genotype. 61
31751677 2020
16
Involvement of p29 in DNA damage responses and Fanconi anemia pathway. 61
19748926 2009
17
Fanconi anemia pathway-deficient tumor cells are hypersensitive to inhibition of ataxia telangiectasia mutated. 61
17431503 2007
18
Characterization of the hamster FancG/Xrcc9 gene and mutations in CHO UV40 and NM3. 61
15123790 2004

Variations for Fanconi Anemia, Complementation Group G

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group G:

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FANCG FANCG, IVS13, G-C, -1 SNV Pathogenic 6713 GRCh37:
GRCh38:
2 FANCG NM_004629.1(FANCG):c.925-2A>G SNV Pathogenic 6716 rs397507561 GRCh37: 9:35076582-35076582
GRCh38: 9:35076585-35076585
3 FANCG NM_004629.1(FANCG):c.1183_1192del (p.Glu395fs) Deletion Pathogenic 41224 rs397507559 GRCh37: 9:35075703-35075712
GRCh38: 9:35075706-35075715
4 FANCG NM_004629.2(FANCG):c.85-1G>A SNV Pathogenic 929672 GRCh37: 9:35079239-35079239
GRCh38: 9:35079242-35079242
5 FANCG NM_004629.2(FANCG):c.118C>T (p.Gln40Ter) SNV Pathogenic 929673 GRCh37: 9:35079205-35079205
GRCh38: 9:35079208-35079208
6 FANCG NM_004629.2(FANCG):c.175+1G>A SNV Pathogenic 929674 GRCh37: 9:35079147-35079147
GRCh38: 9:35079150-35079150
7 FANCG NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) SNV Pathogenic 929676 GRCh37: 9:35078697-35078697
GRCh38: 9:35078700-35078700
8 FANCG NM_004629.2(FANCG):c.307+2del Deletion Pathogenic 929680 GRCh37: 9:35078600-35078600
GRCh38: 9:35078603-35078603
9 FANCG NM_004629.2(FANCG):c.65G>C (p.Arg22Pro) SNV Pathogenic 929682 GRCh37: 9:35079457-35079457
GRCh38: 9:35079460-35079460
10 FANCG NM_004629.2(FANCG):c.565G>T (p.Glu189Ter) SNV Pathogenic 929683 GRCh37: 9:35077342-35077342
GRCh38: 9:35077345-35077345
11 FANCG NM_004629.2(FANCG):c.572T>G (p.Leu191Ter) SNV Pathogenic 929684 GRCh37: 9:35077335-35077335
GRCh38: 9:35077338-35077338
12 FANCG NM_004629.2(FANCG):c.646+1G>T SNV Pathogenic 929686 GRCh37: 9:35077260-35077260
GRCh38: 9:35077263-35077263
13 FANCG NM_004629.2(FANCG):c.778-1G>C SNV Pathogenic 929687 GRCh37: 9:35076868-35076868
GRCh38: 9:35076871-35076871
14 FANCG NM_004629.2(FANCG):c.1649del (p.Thr550fs) Deletion Pathogenic 929704 GRCh37: 9:35074479-35074479
GRCh38: 9:35074482-35074482
15 FANCG NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) SNV Pathogenic 929705 GRCh37: 9:35074413-35074413
GRCh38: 9:35074416-35074416
16 FANCG NM_004629.2(FANCG):c.1749del (p.Asp584fs) Deletion Pathogenic 929706 GRCh37: 9:35074379-35074379
GRCh38: 9:35074382-35074382
17 FANCG NM_004629.2(FANCG):c.1761-1G>A SNV Pathogenic 929708 GRCh37: 9:35074214-35074214
GRCh38: 9:35074217-35074217
18 FANCG NM_004629.2(FANCG):c.1763C>T (p.Ser588Phe) SNV Pathogenic 929709 GRCh37: 9:35074211-35074211
GRCh38: 9:35074214-35074214
19 FANCG NM_004629.2(FANCG):c.244dup (p.Ala82fs) Duplication Pathogenic 929677 GRCh37: 9:35078664-35078665
GRCh38: 9:35078667-35078668
20 FANCG NM_004629.2(FANCG):c.883dup (p.Asp295fs) Duplication Pathogenic 929688 GRCh37: 9:35076761-35076762
GRCh38: 9:35076764-35076765
21 FANCG NM_004629.2(FANCG):c.1008dup (p.Pro337fs) Duplication Pathogenic 929690 GRCh37: 9:35076496-35076497
GRCh38: 9:35076499-35076500
22 FANCG NM_004629.2(FANCG):c.1216dup (p.Gln406fs) Duplication Pathogenic 929695 GRCh37: 9:35075678-35075679
GRCh38: 9:35075681-35075682
23 FANCG NM_004629.2(FANCG):c.1771dup (p.Leu591fs) Duplication Pathogenic 929710 GRCh37: 9:35074202-35074203
GRCh38: 9:35074205-35074206
24 FANCG NM_004629.2(FANCG):c.1761-1G>C SNV Pathogenic 929707 GRCh37: 9:35074214-35074214
GRCh38: 9:35074217-35074217
25 FANCG NM_004629.1(FANCG):c.307+1G>C SNV Pathogenic 6714 rs200479612 GRCh37: 9:35078601-35078601
GRCh38: 9:35078604-35078604
26 FANCG NM_004629.1(FANCG):c.1066C>T (p.Gln356Ter) SNV Pathogenic 6715 rs121434426 GRCh37: 9:35076439-35076439
GRCh38: 9:35076442-35076442
27 FANCG NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) Deletion Pathogenic 6718 rs397507560 GRCh37: 9:35074170-35074179
GRCh38: 9:35074173-35074182
28 FANCG NM_004629.1(FANCG):c.637_643del (p.Tyr213fs) Deletion Pathogenic 6719 rs587776640 GRCh37: 9:35077264-35077270
GRCh38: 9:35077267-35077273
29 FANCG NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter) SNV Pathogenic 929698 GRCh37: 9:35075032-35075032
GRCh38: 9:35075035-35075035
30 FANCG NM_004629.2(FANCG):c.1561G>T (p.Gly521Ter) SNV Pathogenic 929699 GRCh37: 9:35074999-35074999
GRCh38: 9:35075002-35075002
31 FANCG NM_004629.2(FANCG):c.1562G>A (p.Gly521Glu) SNV Pathogenic 929700 GRCh37: 9:35074998-35074998
GRCh38: 9:35075001-35075001
32 FANCG NM_004629.2(FANCG):c.1593del (p.Ala533fs) Deletion Pathogenic 929701 GRCh37: 9:35074967-35074967
GRCh38: 9:35074970-35074970
33 FANCG NM_004629.2(FANCG):c.1636G>C (p.Gly546Arg) SNV Pathogenic 929702 GRCh37: 9:35074924-35074924
GRCh38: 9:35074927-35074927
34 FANCG NM_004629.2(FANCG):c.1143+5G>A SNV Pathogenic 929692 GRCh37: 9:35075954-35075954
GRCh38: 9:35075957-35075957
35 FANCG NM_004629.2(FANCG):c.1144-1G>C SNV Pathogenic 929693 GRCh37: 9:35075752-35075752
GRCh38: 9:35075755-35075755
36 FANCG NM_004629.1(FANCG):c.156dup (p.Leu53fs) Duplication Pathogenic 216091 rs863224506 GRCh37: 9:35079166-35079167
GRCh38: 9:35079169-35079170
37 FANCG NM_004629.2(FANCG):c.256C>T (p.Gln86Ter) SNV Pathogenic 929679 GRCh37: 9:35078653-35078653
GRCh38: 9:35078656-35078656
38 FANCG NM_004629.2(FANCG):c.620del (p.Leu207fs) Deletion Pathogenic 929685 GRCh37: 9:35077287-35077287
GRCh38: 9:35077290-35077290
39 FANCG NM_004629.1(FANCG):c.652C>T (p.Gln218Ter) SNV Pathogenic 576782 rs1209807088 GRCh37: 9:35077093-35077093
GRCh38: 9:35077096-35077096
40 FANCG NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) SNV Pathogenic 6712 rs121434425 GRCh37: 9:35078335-35078335
GRCh38: 9:35078338-35078338
41 FANCG NM_004629.1(FANCG):c.1480+1G>C SNV Pathogenic 6717 rs149616199 GRCh37: 9:35075275-35075275
GRCh38: 9:35075278-35075278
42 FANCG NM_004629.1(FANCG):c.908T>C (p.Leu303Pro) SNV Pathogenic 571355 rs1563986439 GRCh37: 9:35076737-35076737
GRCh38: 9:35076740-35076740
43 FANCG NM_004629.1(FANCG):c.1077-2A>G SNV Pathogenic 445394 rs769547477 GRCh37: 9:35076027-35076027
GRCh38: 9:35076030-35076030
44 FANCG NM_004629.1(FANCG):c.1158del (p.Ser387fs) Deletion Pathogenic 619961 rs757418016 GRCh37: 9:35075737-35075737
GRCh38: 9:35075740-35075740
45 FANCG NM_004629.2(FANCG):c.1158dup (p.Ser387fs) Duplication Pathogenic 623182 rs757418016 GRCh37: 9:35075736-35075737
GRCh38: 9:35075739-35075740
46 FANCG NM_004629.1(FANCG):c.1642C>T (p.Arg548Ter) SNV Pathogenic 574728 rs779834525 GRCh37: 9:35074486-35074486
GRCh38: 9:35074489-35074489
47 FANCG NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) SNV Likely pathogenic 843989 GRCh37: 9:35076976-35076976
GRCh38: 9:35076979-35076979
48 FANCG NM_004629.2(FANCG):c.1359del (p.Ala454fs) Deletion Likely pathogenic 929696 GRCh37: 9:35075536-35075536
GRCh38: 9:35075539-35075539
49 FANCG NM_004629.1(FANCG):c.20C>T (p.Ser7Phe) SNV Uncertain significance 134358 rs35984312 GRCh37: 9:35079502-35079502
GRCh38: 9:35079505-35079505
50 FANCG NM_004629.1(FANCG):c.1747G>T (p.Glu583Ter) SNV Uncertain significance 188303 rs786204205 GRCh37: 9:35074381-35074381
GRCh38: 9:35074384-35074384

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group G:

72
# Symbol AA change Variation ID SNP ID
1 FANCG p.Leu71Pro VAR_017495

Expression for Fanconi Anemia, Complementation Group G

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group G.

Pathways for Fanconi Anemia, Complementation Group G

GO Terms for Fanconi Anemia, Complementation Group G

Cellular components related to Fanconi Anemia, Complementation Group G according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.35 VCP TM9SF2 MIR1304 GAL3ST4 ARPC1A
2 site of double-strand break GO:0035861 8.8 VCP HUS1 ARPC1A

Biological processes related to Fanconi Anemia, Complementation Group G according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.33 VCP HUS1 FANCG
2 DNA repair GO:0006281 9.13 VCP HUS1 FANCG
3 interstrand cross-link repair GO:0036297 8.62 VCP FANCG

Sources for Fanconi Anemia, Complementation Group G

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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