GNAL
Basic information
Region (hg38): 18:11689264-11885685
Links
Phenotypes
GenCC
Source:
- dystonia 25 (Strong), mode of inheritance: AD
- dystonia 25 (Strong), mode of inheritance: AD
- dystonia 25 (Supportive), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Dystonia 25 | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Neurologic | 23222958 |
ClinVar
This is a list of variants' phenotypes submitted to
- Dystonic disorder (6 variants)
- not provided (1 variants)
- Dystonia 25 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GNAL gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 24 | 35 | ||||
missense | 47 | 54 | ||||
nonsense | 3 | |||||
start loss | 1 | |||||
frameshift | 3 | |||||
inframe indel | 6 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region | 5 | 9 | 2 | 16 | ||
non coding | 25 | 40 | 54 | 119 | ||
Total | 7 | 6 | 78 | 66 | 65 |
Variants in GNAL
This is a list of pathogenic ClinVar variants found in the GNAL region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
18-11689453-C-T | Benign (Jul 05, 2018) | |||
18-11689523-T-C | Dystonia 25 • not specified | Benign (Jul 31, 2024) | ||
18-11689572-G-C | Dystonic disorder | Likely benign (Jul 27, 2023) | ||
18-11689600-G-T | Uncertain significance (Jun 01, 2019) | |||
18-11689609-G-C | Dystonic disorder | Uncertain significance (Aug 26, 2021) | ||
18-11689611-G-A | Dystonic disorder | Likely benign (Dec 20, 2018) | ||
18-11689626-G-T | Uncertain significance (Jul 01, 2017) | |||
18-11689632-G-A | Dystonic disorder | Uncertain significance (Sep 06, 2017) | ||
18-11689634-A-G | Uncertain significance (Jul 01, 2022) | |||
18-11689670-C-T | Likely benign (Jul 17, 2018) | |||
18-11689670-CGGCCCT-C | GNAL-related disorder | Benign (Oct 31, 2018) | ||
18-11689670-C-CGGCCCT | Dystonic disorder | Benign (Jan 22, 2024) | ||
18-11689700-G-A | Dystonic disorder | Benign (Jan 22, 2024) | ||
18-11689714-A-C | Inborn genetic diseases | Uncertain significance (Sep 16, 2021) | ||
18-11689756-C-T | not specified | Uncertain significance (May 22, 2024) | ||
18-11689757-G-A | Dystonic disorder | Uncertain significance (Jul 24, 2018) | ||
18-11689757-G-C | Uncertain significance (Nov 01, 2024) | |||
18-11689809-T-TGCCGAGGAGCGCGAGGCG | Uncertain significance (Feb 01, 2024) | |||
18-11689812-C-G | not specified | Uncertain significance (Nov 22, 2023) | ||
18-11689813-G-GAGGAGCGCGAGGCGGCCA | Likely benign (Jan 01, 2023) | |||
18-11689815-G-A | Dystonic disorder • GNAL-related disorder | Benign/Likely benign (Jan 18, 2024) | ||
18-11689824-G-A | Dystonic disorder • GNAL-related disorder | Benign (Jan 07, 2020) | ||
18-11689828-G-A | Uncertain significance (Feb 01, 2017) | |||
18-11689831-A-G | Dystonic disorder | Uncertain significance (Aug 29, 2018) | ||
18-11689834-G-A | Dystonic disorder | Uncertain significance (Dec 20, 2018) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GNAL | protein_coding | protein_coding | ENST00000334049 | 12 | 196730 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.998 | 0.00171 | 125048 | 0 | 1 | 125049 | 0.00000400 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 3.34 | 87 | 229 | 0.380 | 0.0000127 | 2995 |
Missense in Polyphen | 23 | 123.55 | 0.18616 | 1430 | ||
Synonymous | 0.466 | 83 | 88.6 | 0.937 | 0.00000541 | 861 |
Loss of Function | 4.25 | 1 | 23.0 | 0.0435 | 0.00000121 | 276 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters.;
- Pathway
- Dopaminergic synapse - Homo sapiens (human);Amoebiasis - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Olfactory transduction - Homo sapiens (human);G Protein Signaling Pathways;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;Neuronal System;Adenylate cyclase inhibitory pathway;Inhibition of adenylate cyclase pathway;Activation of GABAB receptors;GABA B receptor activation;Rapid glucocorticoid signaling;GABA receptor activation;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;Adenylate cyclase activating pathway;G-protein mediated events;Opioid Signalling;G alpha (i) signalling events;GPCR downstream signalling;LPA4-mediated signaling events;Plasma membrane estrogen receptor signaling;Endothelins
(Consensus)
Recessive Scores
- pRec
- 0.189
Intolerance Scores
- loftool
- 0.0256
- rvis_EVS
- -0.3
- rvis_percentile_EVS
- 32.62
Haploinsufficiency Scores
- pHI
- 0.370
- hipred
- Y
- hipred_score
- 0.792
- ghis
- 0.572
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.743
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gnal
- Phenotype
- taste/olfaction phenotype; growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- signal transduction;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;sensory perception of smell
- Cellular component
- heterotrimeric G-protein complex;plasma membrane;extracellular exosome
- Molecular function
- G protein-coupled receptor binding;GTPase activity;GTP binding;G-protein beta/gamma-subunit complex binding;metal ion binding